-
1
-
-
84863750923
-
Hereditary Motor and Sensory Neuropathies
-
D.L. Rimoin, J.M. Connor, R.E. Pyeritz, R.E. Korf (Eds), 5th ed, London: Harcourt
-
K. Szigeti and J.R. Lupski (2007) Hereditary Motor and Sensory Neuropathies. D.L. Rimoin, J.M. Connor, R.E. Pyeritz, R.E. Korf (Eds) Principles and Practices of Medical Genetics; 5th ed London: Harcourt 2946-2962.
-
(2007)
Principles and Practices of Medical Genetics;
, pp. 2946-2962
-
-
Szigeti, K.1
Lupski, J.R.2
-
2
-
-
0003720078
-
Charcot–Marie–Tooth Peripheral Neuropathies and Related Disorders
-
C.R. Scriver, A.R. Beaudet, D. Sly, D. Valle (Eds), New York: McGraw-Hill
-
J.R. Lupski and C.A. Garcia (2001) Charcot–Marie–Tooth Peripheral Neuropathies and Related Disorders. C.R. Scriver, A.R. Beaudet, D. Sly, D. Valle (Eds) The Metabolic and Molecular Bases of Inherited Disease New York: McGraw-Hill 5759-5788.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5759-5788
-
-
Lupski, J.R.1
Garcia, C.A.2
-
3
-
-
0032861992
-
Molecular Genetics and Biology of Inherited Peripheral Neuropathies: A Fast-Moving Field
-
E. Nelis, V. Timmerman, P. De Jonghe, et al. (1999) Molecular Genetics and Biology of Inherited Peripheral Neuropathies: A Fast-Moving Field. Neurogenetics 2 137-148.
-
(1999)
Neurogenetics
, vol.2
, pp. 137-148
-
-
Nelis, E.1
Timmerman, V.2
De Jonghe, P.3
-
4
-
-
0032706596
-
Charcot–Marie–Tooth Disease and Related Neuropathies: Molecular Basis for Distinction and Diagnosis
-
D. Pareyson (1999) Charcot–Marie–Tooth Disease and Related Neuropathies: Molecular Basis for Distinction and Diagnosis. Muscle Nerve 22 1498-1509.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1498-1509
-
-
Pareyson, D.1
-
5
-
-
0141864610
-
Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot–Marie–Tooth Disease and Related Peripheral Neuropathies
-
G.M. Saifi, K. Szigeti, G.J. Snipes, et al. (2003) Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot–Marie–Tooth Disease and Related Peripheral Neuropathies. J. Investig. Med. 51 261-283.
-
(2003)
J. Investig. Med.
, vol.51
, pp. 261-283
-
-
Saifi, G.M.1
Szigeti, K.2
Snipes, G.J.3
-
6
-
-
0032977574
-
Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular Mechanisms
-
L.E. Warner, C.A. Garcia and J.R. Lupski (1999) Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular Mechanisms. Annu. Rev. Med. 50 263-275.
-
(1999)
Annu. Rev. Med.
, vol.50
, pp. 263-275
-
-
Warner, L.E.1
Garcia, C.A.2
Lupski, J.R.3
-
7
-
-
0016266593
-
Genetic and Clinical Aspects of Charcot–Marie–Tooth’s Disease
-
H. Skre (1974) Genetic and Clinical Aspects of Charcot–Marie–Tooth’s Disease. Clin. Genet. 6 98-118.
-
(1974)
Clin. Genet.
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
8
-
-
0014235716
-
Segmental Demyelinization in Biopsied Nerves from Patients with the Syndrome of Dejerine and Sottas: Light, Phase and Electron Microscopic Studies
-
P.J. Dyck and M.R. Gomez (1968) Segmental Demyelinization in Biopsied Nerves from Patients with the Syndrome of Dejerine and Sottas: Light, Phase and Electron Microscopic Studies. J. Neuropathol. Exp. Neurol. 27 113-114.
-
(1968)
J. Neuropathol. Exp. Neurol.
, vol.27
, pp. 113-114
-
-
Dyck, P.J.1
Gomez, M.R.2
-
9
-
-
0026538812
-
Immunohistochemical and Ultrastructural Classification of Peripheral Neuropathies with Onion-Bulbs
-
S.M. Chou (1992) Immunohistochemical and Ultrastructural Classification of Peripheral Neuropathies with Onion-Bulbs. Clin. Neuropathol. 11 109-114.
-
(1992)
Clin. Neuropathol.
, vol.11
, pp. 109-114
-
-
Chou, S.M.1
-
10
-
-
0026544673
-
Congenital Hypomyelination Neuropathy with Arthrogryposis Multiplex Congenita
-
K.B. Boylan, D.M. Ferriero, C.M. Greco, et al. (1992) Congenital Hypomyelination Neuropathy with Arthrogryposis Multiplex Congenita. Ann. Neurol. 31 337-340.
-
(1992)
Ann. Neurol.
, vol.31
, pp. 337-340
-
-
Boylan, K.B.1
Ferriero, D.M.2
Greco, C.M.3
-
11
-
-
0023944411
-
Congenital Absence of Peripheral Myelin: Abnormal Schwann Cell Development Causes Lethal Arthrogryposis Multiplex Congenita
-
L. Charnas, B. Trapp and J. Griffin (1988) Congenital Absence of Peripheral Myelin: Abnormal Schwann Cell Development Causes Lethal Arthrogryposis Multiplex Congenita. Neurology 38 966-974.
-
(1988)
Neurology
, vol.38
, pp. 966-974
-
-
Charnas, L.1
Trapp, B.2
Griffin, J.3
-
12
-
-
0020601789
-
Congenital Hypomyelination Neuropathy in a Newborn
-
S. Hakamada, T. Kumagai, K. Hara, et al. (1983) Congenital Hypomyelination Neuropathy in a Newborn. Neuropediatrics 14 182-183.
-
(1983)
Neuropediatrics
, vol.14
, pp. 182-183
-
-
Hakamada, S.1
Kumagai, T.2
Hara, K.3
-
13
-
-
0017116810
-
Chronic Polyradiculoneuropathy of Infancy. A Report of Three Cases with Familial Incidence
-
M. Kasman, L. Bernstein and S. Schulman (1976) Chronic Polyradiculoneuropathy of Infancy. A Report of Three Cases with Familial Incidence. Neurology 26 565-573.
-
(1976)
Neurology
, vol.26
, pp. 565-573
-
-
Kasman, M.1
Bernstein, L.2
Schulman, S.3
-
14
-
-
0022892284
-
Hypomyelination Neuropathy in a Female Newborn Presenting as Arthrogryposis Multiplex Congenita
-
R.J. Seitz, W. Wechsler, D.S. Mosny and H.G. Lenard (1986) Hypomyelination Neuropathy in a Female Newborn Presenting as Arthrogryposis Multiplex Congenita. Neuropediatrics 17 132-136.
-
(1986)
Neuropediatrics
, vol.17
, pp. 132-136
-
-
Seitz, R.J.1
Wechsler, W.2
Mosny, D.S.3
Lenard, H.G.4
-
15
-
-
0027270106
-
Hereditary Demyelinating Motor and Sensory Neuropathy
-
A. Gabreels-Festen and F. Gabreels (1993) Hereditary Demyelinating Motor and Sensory Neuropathy. Brain Pathol. 3 135-146.
-
(1993)
Brain Pathol.
, vol.3
, pp. 135-146
-
-
Gabreels-Festen, A.1
Gabreels, F.2
-
16
-
-
0019925158
-
Congenital Hypomyelination Polyneuropathy. Pathological Findings Compared with Polyneuropathies Starting Later in Life
-
F. Guzzetta, G. Ferriere and G. Lyon (1982) Congenital Hypomyelination Polyneuropathy. Pathological Findings Compared with Polyneuropathies Starting Later in Life. Brain 105 395-416.
-
(1982)
Brain
, vol.105
, pp. 395-416
-
-
Guzzetta, F.1
Ferriere, G.2
Lyon, G.3
-
17
-
-
0032797721
-
Functional Consequences of Mutations in the Early Growth Response 2 Gene (EGR2) Correlate with Severity of Human Myelinopathies
-
L.E. Warner, J. Svaren, J. Milbrandt and J.R. Lupski (1999) Functional Consequences of Mutations in the Early Growth Response 2 Gene (EGR2) Correlate with Severity of Human Myelinopathies. Hum. Mol. Genet. 8 1245-1251.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1245-1251
-
-
Warner, L.E.1
Svaren, J.2
Milbrandt, J.3
Lupski, J.R.4
-
18
-
-
0033596802
-
Charcot–Marie–Tooth Disease Type 2 with Restless Legs Syndrome
-
F. Gemignani, A. Marbini, G. Di Giovanni, et al. (1999) Charcot–Marie–Tooth Disease Type 2 with Restless Legs Syndrome. Neurology 52 1064-1066.
-
(1999)
Neurology
, vol.52
, pp. 1064-1066
-
-
Gemignani, F.1
Marbini, A.2
Di Giovanni, G.3
-
19
-
-
0018258783
-
Hypertrophic Charcot–Marie–Tooth Disease. Light and Electron Microscope Studies of the Sural Nerve
-
P.A. Low, J.G. McLeod and J.W. Prineas (1978) Hypertrophic Charcot–Marie–Tooth Disease. Light and Electron Microscope Studies of the Sural Nerve. J. Neurol. Sci. 35 93-115.
-
(1978)
J. Neurol. Sci.
, vol.35
, pp. 93-115
-
-
Low, P.A.1
McLeod, J.G.2
Prineas, J.W.3
-
20
-
-
34447275152
-
Recurrent Peripheral Nerve Palsies in a Family
-
D.M. Davies (1954) Recurrent Peripheral Nerve Palsies in a Family. Lancet 267 266-268.
-
(1954)
Lancet
, vol.267
, pp. 266-268
-
-
Davies, D.M.1
-
21
-
-
0001215716
-
Inherited Recurrent Focal Neuropathies
-
P.J. Dyck, P.K. Thomas, J.W. Griffin (Eds), Philadelphia: W.B. Saunders
-
A.J. Windebank (1993) Inherited Recurrent Focal Neuropathies. P.J. Dyck, P.K. Thomas, J.W. Griffin (Eds) Peripheral Neuropathy Philadelphia: W.B. Saunders 1137-1148.
-
(1993)
Peripheral Neuropathy
, pp. 1137-1148
-
-
Windebank, A.J.1
-
22
-
-
0029995031
-
Phenotypic Heterogeneity in Hereditary Neuropathy with Liability to Pressure Palsies Associated with Chromosome 17p11.2-12 Deletion
-
D. Pareyson, V. Scaioli, F. Taroni, et al. (1996) Phenotypic Heterogeneity in Hereditary Neuropathy with Liability to Pressure Palsies Associated with Chromosome 17p11.2-12 Deletion. Neurology 46 1133-1137.
-
(1996)
Neurology
, vol.46
, pp. 1133-1137
-
-
Pareyson, D.1
Scaioli, V.2
Taroni, F.3
-
23
-
-
0015464659
-
Hereditary Neuropathy with Liability to Pressure Palsies. Electrophysiological and Histopathological Aspects
-
F. Behse, F. Buchthal, F. Carlsen and G.G. Knappeis (1972) Hereditary Neuropathy with Liability to Pressure Palsies. Electrophysiological and Histopathological Aspects. Brain 95 777-794.
-
(1972)
Brain
, vol.95
, pp. 777-794
-
-
Behse, F.1
Buchthal, F.2
Carlsen, F.3
Knappeis, G.G.4
-
24
-
-
0025294738
-
The Electrophysiologic Profile of Dejerine–Sottas Disease (HMSN III)
-
T.J. Benstead, N.L. Kuntz, R.G. Miller and J.R. Daube (1990) The Electrophysiologic Profile of Dejerine–Sottas Disease (HMSN III). Muscle Nerve 13 586-592.
-
(1990)
Muscle Nerve
, vol.13
, pp. 586-592
-
-
Benstead, T.J.1
Kuntz, N.L.2
Miller, R.G.3
Daube, J.R.4
-
25
-
-
0023127966
-
The Hypertrophic Forms of Hereditary Motor and Sensory Neuropathy. A Study of Hypertrophic Charcot–Marie–Tooth Disease (HMSN type I) and Dejerine–Sottas Disease (HMSN type III) in Childhood
-
R.A. Ouvrier, J.G. McLeod and T.E. Conchin (1987) The Hypertrophic Forms of Hereditary Motor and Sensory Neuropathy. A Study of Hypertrophic Charcot–Marie–Tooth Disease (HMSN type I) and Dejerine–Sottas Disease (HMSN type III) in Childhood. Brain 110(Pt 1), 121-148.
-
(1987)
Brain
, vol.110
, pp. 121-148
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Conchin, T.E.3
-
26
-
-
0031044004
-
Hereditary Demyelinating Neuropathy of Infancy. A Genetically Complex Syndrome
-
J. Tyson, D. Ellis, U. Fairbrother, et al. (1997) Hereditary Demyelinating Neuropathy of Infancy. A Genetically Complex Syndrome. Brain 120(Pt 1), 47-63.
-
(1997)
Brain
, vol.120
, pp. 47-63
-
-
Tyson, J.1
Ellis, D.2
Fairbrother, U.3
-
27
-
-
0018942439
-
The Clinical Features of Hereditary Motor and Sensory Neuropathy Types I and II
-
A.E. Harding and P.K. Thomas (1980) The Clinical Features of Hereditary Motor and Sensory Neuropathy Types I and II. Brain 103 259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
28
-
-
0033554331
-
A Clinical Review of Charcot–Marie–Tooth
-
C.A. Garcia (1999) A Clinical Review of Charcot–Marie–Tooth. Ann. N. Y. Acad. Sci. 883 69-76.
-
(1999)
Ann. N. Y. Acad. Sci.
, vol.883
, pp. 69-76
-
-
Garcia, C.A.1
-
29
-
-
0018817642
-
Autosomal Recessive forms of Hereditary Motor and Sensory Neuropathy
-
A.E. Harding and P.K. Thomas (1980) Autosomal Recessive forms of Hereditary Motor and Sensory Neuropathy. J. Neurol. Neurosurg. Psychiatry 43 669-678.
-
(1980)
J. Neurol. Neurosurg. Psychiatry
, vol.43
, pp. 669-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
30
-
-
0032589645
-
The Roussy–Levy Family: From the Original Description to the Gene
-
V. Plante-Bordeneuve, A. Guiochon-Mantel, C. Lacroix, et al. (1999) The Roussy–Levy Family: From the Original Description to the Gene. Ann. Neurol. 46 770-773.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 770-773
-
-
Plante-Bordeneuve, V.1
Guiochon-Mantel, A.2
Lacroix, C.3
-
31
-
-
0032553926
-
Roussy–Levy Syndrome is a Phenotypic Variant of Charcot–Marie–Tooth Syndrome IA Associated with a Duplication on Chromosome 17p11.2
-
M. Auer-Grumbach, S. Strasser-Fuchs, K. Wagner, et al. (1998) Roussy–Levy Syndrome is a Phenotypic Variant of Charcot–Marie–Tooth Syndrome IA Associated with a Duplication on Chromosome 17p11.2. J. Neurol. Sci. 154 72-75.
-
(1998)
J. Neurol. Sci.
, vol.154
, pp. 72-75
-
-
Auer-Grumbach, M.1
Strasser-Fuchs, S.2
Wagner, K.3
-
32
-
-
0032812156
-
X-Linked Dominant Charcot–Marie–Tooth Neuropathy: Clinical, Electrophysiological, and Morphological Phenotype in Four Families with Different Connexin32 Mutations(1)
-
J. Senderek, B. Hermanns, C. Bergmann, et al. (1999) X-Linked Dominant Charcot–Marie–Tooth Neuropathy: Clinical, Electrophysiological, and Morphological Phenotype in Four Families with Different Connexin32 Mutations(1). J. Neurol. Sci. 167 90-101.
-
(1999)
J. Neurol. Sci.
, vol.167
, pp. 90-101
-
-
Senderek, J.1
Hermanns, B.2
Bergmann, C.3
-
33
-
-
0030985749
-
The Phenotypic Manifestations of Chromosome 17p11.2 Duplication
-
P.K. Thomas, W. Marques Jr., M.B. Davis, et al. (1997) The Phenotypic Manifestations of Chromosome 17p11.2 Duplication. Brain 120(Pt 3), 465-478.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques, W.2
Davis, M.B.3
-
34
-
-
60549087147
-
Practice Parameter: Evaluation of Distal Symmetric Polyneuropathy: Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
-
J.D. England, G.S. Gronseth, G. Franklin, G.T. Carter, L.J. Kinsella, J.A. Cohen, A.K. Asbury, K. Szigeti, J.R. Lupski, N. Latov, et al. (2009) Practice Parameter: Evaluation of Distal Symmetric Polyneuropathy: Role of Autonomic Testing, Nerve Biopsy, and Skin Biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 72(2), 177-184.
-
(2009)
Neurology
, vol.72
, Issue.2
, pp. 177-184
-
-
England, J.D.1
Gronseth, G.S.2
Franklin, G.3
Carter, G.T.4
Kinsella, L.J.5
Cohen, J.A.6
Asbury, A.K.7
Szigeti, K.8
Lupski, J.R.9
Latov, N.10
-
35
-
-
60549116496
-
Practice Parameter: Evaluation of Distal Symmetric Polyneuropathy: Role of Laboratory and Genetic Testing (An Evidence-Based Review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
-
J.D. England, G.S. Gronseth, G. Franklin, G.T. Carter, L.J. Kinsella, J.A. Cohen, A.K. Asbury, K. Szigeti, J.R. Lupski, N. Latov, et al. (2009) Practice Parameter: Evaluation of Distal Symmetric Polyneuropathy: Role of Laboratory and Genetic Testing (An Evidence-Based Review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 72(2), 185-192.
-
(2009)
Neurology
, vol.72
, Issue.2
, pp. 185-192
-
-
England, J.D.1
Gronseth, G.S.2
Franklin, G.3
Carter, G.T.4
Kinsella, L.J.5
Cohen, J.A.6
Asbury, A.K.7
Szigeti, K.8
Lupski, J.R.9
Latov, N.10
-
36
-
-
0025997898
-
Duplication in Chromosome 17p11.2 in Charcot–Marie–Tooth Neuropathy Type 1a (CMT 1a). The HMSN Collaborative Research Group
-
P. Raeymaekers, V. Timmerman, E. Nelis, P. De Jonghe, J.E. Hoogendijk, F. Baas, D.F. Barker, J.J. Martin, M. De Visser, P.A. Bolhuis, et al. (1991) Duplication in Chromosome 17p11.2 in Charcot–Marie–Tooth Neuropathy Type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul. Disord. 1(2), 93-97.
-
(1991)
Neuromuscul. Disord.
, vol.1
, Issue.2
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
-
37
-
-
0031731487
-
Genomic Disorders: Structural Features of the Genome can lead to DNA Rearrangements and Human Disease Traits
-
J.R. Lupski (1998) Genomic Disorders: Structural Features of the Genome can lead to DNA Rearrangements and Human Disease Traits. Trends Genet. 14 417-422.
-
(1998)
Trends Genet.
, vol.14
, pp. 417-422
-
-
Lupski, J.R.1
-
38
-
-
67649973564
-
Genomic Disorders Ten Years on
-
J.R. Lupski (2009) Genomic Disorders Ten Years on. Genome Med. 1(4), 42.
-
(2009)
Genome Med.
, vol.1
, Issue.4
, pp. 42
-
-
Lupski, J.R.1
-
39
-
-
0027972378
-
Two Autosomal Dominant Neuropathies Result from Reciprocal DNA Duplication/Deletion of a Region on Chromosome 17
-
P.F. Chance, N. Abbas, M.W. Lensch, et al. (1994) Two Autosomal Dominant Neuropathies Result from Reciprocal DNA Duplication/Deletion of a Region on Chromosome 17. Hum. Mol. Genet. 3 223-228.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
-
40
-
-
0027509953
-
DNA Deletion Associated with Hereditary Neuropathy with Liability to Pressure Palsies
-
P.F. Chance, M.K. Alderson, K.A. Leppig, et al. (1993) DNA Deletion Associated with Hereditary Neuropathy with Liability to Pressure Palsies. Cell 72 143-151.
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
-
41
-
-
9144230156
-
Peripheral Myelin Protein 22 kDa and Protein Zero: Domain Specific Trans-Interactions
-
B. Hasse, F. Bosse, H. Hanenberg and H. Werner Muller (2004) Peripheral Myelin Protein 22 kDa and Protein Zero: Domain Specific Trans-Interactions. Mol. Cell. Neurosci. 27 370-378.
-
(2004)
Mol. Cell. Neurosci.
, vol.27
, pp. 370-378
-
-
Hasse, B.1
Bosse, F.2
Hanenberg, H.3
Werner Muller, H.4
-
42
-
-
0035857751
-
Localization of the K(+)-Cl(-) Cotransporter, KCC3, in the Central and Peripheral Nervous Systems: Expression in the Choroid Plexus, Large Neurons and White Matter Tracts
-
M.M. Pearson, J. Lu, D.B. Mount and E. Delpire (2001) Localization of the K(+)-Cl(-) Cotransporter, KCC3, in the Central and Peripheral Nervous Systems: Expression in the Choroid Plexus, Large Neurons and White Matter Tracts. Neuroscience 103 481-491.
-
(2001)
Neuroscience
, vol.103
, pp. 481-491
-
-
Pearson, M.M.1
Lu, J.2
Mount, D.B.3
Delpire, E.4
-
43
-
-
0027314668
-
Charcot–Marie–Tooth Disease Type 1A. Association with a Spontaneous Point Mutation in the PMP22 Gene
-
B.B. Roa, C.A. Garcia, U. Suter, et al. (1993) Charcot–Marie–Tooth Disease Type 1A. Association with a Spontaneous Point Mutation in the PMP22 Gene. N. Engl. J. Med. 329 96-101.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
-
44
-
-
0029863589
-
Estimation of the Mutation Frequencies in Charcot–Marie–Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
-
E. Nelis, C. Van Broeckhoven, P. De Jonghe, et al. (1996) Estimation of the Mutation Frequencies in Charcot–Marie–Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study. Eur. J. Hum. Genet. 4 25-33.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
-
45
-
-
0027374931
-
Molecular Analyses of Unrelated Charcot–Marie–Tooth (CMT) Disease Patients Suggest a High Frequency of the CMTIA Duplication
-
C.A. Wise, C.A. Garcia, S.N. Davis, et al. (1993) Molecular Analyses of Unrelated Charcot–Marie–Tooth (CMT) Disease Patients Suggest a High Frequency of the CMTIA Duplication. Am. J. Hum. Genet. 53 853-863.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
-
46
-
-
0027108731
-
De-novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
-
J.E. Hoogendijk, G.W. Hensels, A.A. Gabreels-Festen, et al. (1992) De-novo Mutation in Hereditary Motor and Sensory Neuropathy Type I. Lancet 339 1081-1082.
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreels-Festen, A.A.3
-
47
-
-
0030048699
-
Deletions of Chromosome 17p11.2 in Multifocal Neuropathies
-
J. Tyson, S. Malcolm, P.K. Thomas and A.E. Harding (1996) Deletions of Chromosome 17p11.2 in Multifocal Neuropathies. Ann. Neurol. 39 180-186.
-
(1996)
Ann. Neurol.
, vol.39
, pp. 180-186
-
-
Tyson, J.1
Malcolm, S.2
Thomas, P.K.3
Harding, A.E.4
-
48
-
-
0033039998
-
Congenital Hypomyelination Neuropathy with Ser72Leu Substitution in PMP22
-
A. Simonati, G.M. Fabrizi, A. Pasquinelli, et al. (1999) Congenital Hypomyelination Neuropathy with Ser72Leu Substitution in PMP22. Neuromuscul. Disord. 9 257-261.
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 257-261
-
-
Simonati, A.1
Fabrizi, G.M.2
Pasquinelli, A.3
-
49
-
-
0026879648
-
The Peripheral Myelin Gene PMP-22/GAS-3 is Duplicated in Charcot–Marie–Tooth Disease Type 1A
-
L.J. Valentijn, P.A. Bolhuis, I. Zorn, et al. (1992) The Peripheral Myelin Gene PMP-22/GAS-3 is Duplicated in Charcot–Marie–Tooth Disease Type 1A. Nat. Genet. 1 166-170.
-
(1992)
Nat. Genet.
, vol.1
, pp. 166-170
-
-
Valentijn, L.J.1
Bolhuis, P.A.2
Zorn, I.3
-
50
-
-
0028339044
-
A Frame Shift Mutation in the PMP22 Gene in Hereditary Neuropathy with Liability to Pressure Palsies
-
G.A. Nicholson, L.J. Valentijn, A.K. Cherryson, et al. (1994) A Frame Shift Mutation in the PMP22 Gene in Hereditary Neuropathy with Liability to Pressure Palsies. Nat. Genet. 6 263-266.
-
(1994)
Nat. Genet.
, vol.6
, pp. 263-266
-
-
Nicholson, G.A.1
Valentijn, L.J.2
Cherryson, A.K.3
-
51
-
-
0030994297
-
Heterozygous Peripheral Myelin Protein 22-Deficient Mice are Affected by a Progressive Demyelinating Tomaculous Neuropathy
-
K. Adlkofer, R. Frei, D.H. Neuberg, et al. (1997) Heterozygous Peripheral Myelin Protein 22-Deficient Mice are Affected by a Progressive Demyelinating Tomaculous Neuropathy. J. Neurosci. 17 4662-4671.
-
(1997)
J. Neurosci.
, vol.17
, pp. 4662-4671
-
-
Adlkofer, K.1
Frei, R.2
Neuberg, D.H.3
-
52
-
-
0029843863
-
Impaired Differentiation of Schwann Cells in Transgenic Mice with Increased PMP22 Gene Dosage
-
J.P. Magyar, R. Martini, T. Ruelicke, et al. (1996) Impaired Differentiation of Schwann Cells in Transgenic Mice with Increased PMP22 Gene Dosage. J. Neurosci. 16 5351-5360.
-
(1996)
J. Neurosci.
, vol.16
, pp. 5351-5360
-
-
Magyar, J.P.1
Martini, R.2
Ruelicke, T.3
-
53
-
-
15844393894
-
A Transgenic Rat Model of Charcot–Marie–Tooth Disease
-
M. Sereda, I. Griffiths, A. Puhlhofer, et al. (1996) A Transgenic Rat Model of Charcot–Marie–Tooth Disease. Neuron 16 1049-1060.
-
(1996)
Neuron
, vol.16
, pp. 1049-1060
-
-
Sereda, M.1
Griffiths, I.2
Puhlhofer, A.3
-
54
-
-
0032815826
-
Distal Axonopathy in Peripheral Nerves of PMP22-Mutant Mice
-
S. Sancho, J.P. Magyar, A. Aguzzi and U. Suter (1999) Distal Axonopathy in Peripheral Nerves of PMP22-Mutant Mice. Brain 122(Pt 8), 1563-1577.
-
(1999)
Brain
, vol.122
, pp. 1563-1577
-
-
Sancho, S.1
Magyar, J.P.2
Aguzzi, A.3
Suter, U.4
-
55
-
-
0033921060
-
Neurological Dysfunction and Axonal Degeneration in Charcot–Marie–Tooth Disease Type 1A
-
K.M. Krajewski, R.A. Lewis, D.R. Fuerst, et al. (2000) Neurological Dysfunction and Axonal Degeneration in Charcot–Marie–Tooth Disease Type 1A. Brain 123(Pt 7), 1516-1527.
-
(2000)
Brain
, vol.123
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
-
56
-
-
0030034214
-
Longitudinal Studies of the Duplication Form of Charcot–Marie–Tooth Polyneuropathy
-
J.M. Killian, P.S. Tiwari, S. Jacobson, et al. (1996) Longitudinal Studies of the Duplication Form of Charcot–Marie–Tooth Polyneuropathy. Muscle Nerve 19 74-78.
-
(1996)
Muscle Nerve
, vol.19
, pp. 74-78
-
-
Killian, J.M.1
Tiwari, P.S.2
Jacobson, S.3
-
57
-
-
0028073907
-
Regulation of Tissue-Specific Expression of Alternative Peripheral Myelin Protein-22 (PMP22) Gene Transcripts by Two Promoters
-
U. Suter, G.J. Snipes, R. Schoener-Scott, et al. (1994) Regulation of Tissue-Specific Expression of Alternative Peripheral Myelin Protein-22 (PMP22) Gene Transcripts by Two Promoters. J. Biol. Chem. 269 25795-25808.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 25795-25808
-
-
Suter, U.1
Snipes, G.J.2
Schoener-Scott, R.3
-
58
-
-
0027196844
-
Detection and Processing of Peripheral Myelin Protein PMP22 in Cultured Schwann Cells
-
S. Pareek, U. Suter, G.J. Snipes, et al. (1993) Detection and Processing of Peripheral Myelin Protein PMP22 in Cultured Schwann Cells. J. Biol. Chem. 268 10372-10379.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 10372-10379
-
-
Pareek, S.1
Suter, U.2
Snipes, G.J.3
-
59
-
-
0025912158
-
Uncompacted Inner Myelin Lamellae in Inherited Tendency to Pressure Palsy
-
H. Yoshikawa and P.J. Dyck (1991) Uncompacted Inner Myelin Lamellae in Inherited Tendency to Pressure Palsy. J. Neuropathol. Exp. Neurol. 50 649-657.
-
(1991)
J. Neuropathol. Exp. Neurol.
, vol.50
, pp. 649-657
-
-
Yoshikawa, H.1
Dyck, P.J.2
-
60
-
-
0035339043
-
Induced Myelination and Demyelination in a Conditional Mouse Model of Charcot–Marie–Tooth Disease Type 1A
-
J. Perea, A. Robertson, T. Tolmachova, et al. (2001) Induced Myelination and Demyelination in a Conditional Mouse Model of Charcot–Marie–Tooth Disease Type 1A. Hum. Mol. Genet. 10 1007-1018.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1007-1018
-
-
Perea, J.1
Robertson, A.2
Tolmachova, T.3
-
61
-
-
1942422646
-
Ascorbic Acid Treatment Corrects the Phenotype of a Mouse Model of Charcot–Marie–Tooth Disease
-
E. Passage, J.C. Norreel, P. Noack-Fraissignes, V. Sanguedolce, J. Pizant, X. Thirion, A. Robaglia-Schlupp, J.F. Pellissier and M. Fontes (2004) Ascorbic Acid Treatment Corrects the Phenotype of a Mouse Model of Charcot–Marie–Tooth Disease. Nat. Med. 10(4), 396-401.
-
(2004)
Nat. Med.
, vol.10
, Issue.4
, pp. 396-401
-
-
Passage, E.1
Norreel, J.C.2
Noack-Fraissignes, P.3
Sanguedolce, V.4
Pizant, J.5
Thirion, X.6
Robaglia-Schlupp, A.7
Pellissier, J.F.8
Fontes, M.9
-
62
-
-
79952736703
-
Ascorbic Acid in Charcot–Marie–Tooth Disease Type 1A (CMT-TRIAAL and CMT-TRAUK): A Double-Blind Randomised Trial
-
D. Pareyson, M.M. Reilly, A. Schenone, G.M. Fabrizi, T. Cavallaro, L. Santoro, G. Vita, A. Quattrone, L. Padua, F. Gemignani, et al. (2011) Ascorbic Acid in Charcot–Marie–Tooth Disease Type 1A (CMT-TRIAAL and CMT-TRAUK): A Double-Blind Randomised Trial. Lancet Neurol. 10(4), 320-328.
-
(2011)
Lancet Neurol.
, vol.10
, Issue.4
, pp. 320-328
-
-
Pareyson, D.1
Reilly, M.M.2
Schenone, A.3
Fabrizi, G.M.4
Cavallaro, T.5
Santoro, L.6
Vita, G.7
Quattrone, A.8
Padua, L.9
Gemignani, F.10
-
63
-
-
0029052144
-
Progesterone Synthesis and Myelin Formation by Schwann Cells
-
H.L. Koenig, M. Schumacher, B. Ferzaz, A.N. Thi, A. Ressouches, R. Guennoun, I. Jung-Testas, P. Robel, Y. Akwa and E.E. Baulieu (1995) Progesterone Synthesis and Myelin Formation by Schwann Cells. Science 268(5216), 1500-1503.
-
(1995)
Science
, vol.268
, Issue.5216
, pp. 1500-1503
-
-
Koenig, H.L.1
Schumacher, M.2
Ferzaz, B.3
Thi, A.N.4
Ressouches, A.5
Guennoun, R.6
Jung-Testas, I.7
Robel, P.8
Akwa, Y.9
Baulieu, E.E.10
-
64
-
-
0347185347
-
Therapeutic Administration of Progesterone Antagonist in a Model of Charcot–Marie–Tooth Disease (CMT-1A)
-
M.W. Sereda, G. Meyer zu Horste, U. Suter, N. Uzma and K.A. Nave (2003) Therapeutic Administration of Progesterone Antagonist in a Model of Charcot–Marie–Tooth Disease (CMT-1A). Nat. Med. 9(12), 1533-1537.
-
(2003)
Nat. Med.
, vol.9
, Issue.12
, pp. 1533-1537
-
-
Sereda, M.W.1
Meyer zu Horste, G.2
Suter, U.3
Uzma, N.4
Nave, K.A.5
-
65
-
-
0024074053
-
Unwrapping the Genes of Myelin
-
G. Lemke (1988) Unwrapping the Genes of Myelin. Neuron 1 535-543.
-
(1988)
Neuron
, vol.1
, pp. 535-543
-
-
Lemke, G.1
-
66
-
-
0021849731
-
Isolation and Sequence of a cDNA Encoding the Major Structural Protein of Peripheral Myelin
-
G. Lemke and R. Axel (1985) Isolation and Sequence of a cDNA Encoding the Major Structural Protein of Peripheral Myelin. Cell 40 501-508.
-
(1985)
Cell
, vol.40
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
67
-
-
0032914609
-
Congenital Hypomyelination Due to Myelin Protein Zero Q215X Mutation
-
P. Mandich, G.L. Mancardi, A. Varese, et al. (1999) Congenital Hypomyelination Due to Myelin Protein Zero Q215X Mutation. Ann. Neurol. 45 676-678.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 676-678
-
-
Mandich, P.1
Mancardi, G.L.2
Varese, A.3
-
68
-
-
0041335143
-
Disturbance of Muscle Fiber Differentiation in Congenital Hypomyelinating Neuropathy Caused by a Novel Myelin Protein Zero Mutation
-
K. Szigeti, G.M. Saifi, D. Armstrong, et al. (2003) Disturbance of Muscle Fiber Differentiation in Congenital Hypomyelinating Neuropathy Caused by a Novel Myelin Protein Zero Mutation. Ann. Neurol. 54 398-402.
-
(2003)
Ann. Neurol.
, vol.54
, pp. 398-402
-
-
Szigeti, K.1
Saifi, G.M.2
Armstrong, D.3
-
69
-
-
16044362374
-
Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
-
L.E. Warner, M.J. Hilz, S.H. Appel, et al. (1996) Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination. Neuron 17 451-460.
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
-
70
-
-
33645636345
-
Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice
-
L. Wrabetz, M. D’Antonio, M. Pennuto, G. Dati, E. Tinelli, P. Fratta, S. Previtali, D. Imperiale, J. Zielasek, K. Toyka, et al. (2006) Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice. J. Neurosci. 26(8), 2358-2368.
-
(2006)
J. Neurosci.
, vol.26
, Issue.8
, pp. 2358-2368
-
-
Wrabetz, L.1
D’Antonio, M.2
Pennuto, M.3
Dati, G.4
Tinelli, E.5
Fratta, P.6
Previtali, S.7
Imperiale, D.8
Zielasek, J.9
Toyka, K.10
-
71
-
-
12144285746
-
Molecular Mechanism for Distinct Neurological Phenotypes Conveyed by Allelic Truncating Mutations
-
K. Inoue, M. Khajavi, T. Ohyama, et al. (2004) Molecular Mechanism for Distinct Neurological Phenotypes Conveyed by Allelic Truncating Mutations. Nat. Genet. 36 361-369.
-
(2004)
Nat. Genet.
, vol.36
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
-
72
-
-
27244435246
-
Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero-Truncating Mutants
-
M. Khajavi, K. Inoue, W. Wiszniewski, T. Ohyama, G.J. Snipes and J.R. Lupski (2005) Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero-Truncating Mutants. Am. J. Hum. Genet. 77(5), 841-850.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, Issue.5
, pp. 841-850
-
-
Khajavi, M.1
Inoue, K.2
Wiszniewski, W.3
Ohyama, T.4
Snipes, G.J.5
Lupski, J.R.6
-
73
-
-
45749132610
-
Different Cellular and Molecular Mechanisms for Early and Late-Onset Myelin Protein Zero Mutations
-
M. Grandis, T. Vigo, M. Passalacqua, M. Jain, S. Scazzola, V. La Padula, M. Brucal, F. Benvenuto, L. Nobbio, A. Cadoni, et al. (2008) Different Cellular and Molecular Mechanisms for Early and Late-Onset Myelin Protein Zero Mutations. Hum. Mol. Genet. 17(13), 1877-1889.
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.13
, pp. 1877-1889
-
-
Grandis, M.1
Vigo, T.2
Passalacqua, M.3
Jain, M.4
Scazzola, S.5
La Padula, V.6
Brucal, M.7
Benvenuto, F.8
Nobbio, L.9
Cadoni, A.10
-
74
-
-
0028824925
-
Protein Zero (P0)-Deficient Mice Show Myelin Degeneration in Peripheral Nerves Characteristic of Inherited Human Neuropathies
-
R. Martini, J. Zielasek, K.V. Toyka, et al. (1995) Protein Zero (P0)-Deficient Mice Show Myelin Degeneration in Peripheral Nerves Characteristic of Inherited Human Neuropathies. Nat. Genet. 11 281-286.
-
(1995)
Nat. Genet.
, vol.11
, pp. 281-286
-
-
Martini, R.1
Zielasek, J.2
Toyka, K.V.3
-
75
-
-
0026615047
-
Mouse P0 Gene Disruption Leads to Hypomyelination, Abnormal Expression of Recognition Molecules, and Degeneration of Myelin and Axons
-
K.P. Giese, R. Martini, G. Lemke, et al. (1992) Mouse P0 Gene Disruption Leads to Hypomyelination, Abnormal Expression of Recognition Molecules, and Degeneration of Myelin and Axons. Cell 71 565-576.
-
(1992)
Cell
, vol.71
, pp. 565-576
-
-
Giese, K.P.1
Martini, R.2
Lemke, G.3
-
76
-
-
0345211489
-
Loss of Distal Axons and Sensory Merkel Cells and Features Indicative of Muscle Denervation in Hindlimbs of P0-Deficient Mice
-
R. Frei, S. Motzing, I. Kinkelin, et al. (1999) Loss of Distal Axons and Sensory Merkel Cells and Features Indicative of Muscle Denervation in Hindlimbs of P0-Deficient Mice. J. Neurosci. 19 6058-6067.
-
(1999)
J. Neurosci.
, vol.19
, pp. 6058-6067
-
-
Frei, R.1
Motzing, S.2
Kinkelin, I.3
-
77
-
-
0031044996
-
Connexins, Gap Junctions and Cell–Cell Signalling in the Nervous System
-
R. Bruzzone and C. Ressot (1997) Connexins, Gap Junctions and Cell–Cell Signalling in the Nervous System. Eur. J. Neurosci. 9 1-6.
-
(1997)
Eur. J. Neurosci.
, vol.9
, pp. 1-6
-
-
Bruzzone, R.1
Ressot, C.2
-
78
-
-
0027772413
-
Connexin Mutations in X-linked Charcot–Marie–Tooth Disease
-
J. Bergoffen, S.S. Scherer, S. Wang, et al. (1993) Connexin Mutations in X-linked Charcot–Marie–Tooth Disease. Science 262 2039-2042.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
-
79
-
-
0029811854
-
The Human Connexin32 Gene Is Transcribed from Two Tissue-Specific Promoters
-
I.M. Neuhaus, L. Bone, S. Wang, et al. (1996) The Human Connexin32 Gene Is Transcribed from Two Tissue-Specific Promoters. Biosci. Rep. 16 239-248.
-
(1996)
Biosci. Rep.
, vol.16
, pp. 239-248
-
-
Neuhaus, I.M.1
Bone, L.2
Wang, S.3
-
80
-
-
0034784158
-
Clinical, Electrophysiological and Molecular Genetic Characteristics of 93 Patients with X-Linked Charcot–Marie–Tooth Disease
-
O. Dubourg, S. Tardieu, N. Birouk, et al. (2001) Clinical, Electrophysiological and Molecular Genetic Characteristics of 93 Patients with X-Linked Charcot–Marie–Tooth Disease. Brain 124 1958-1967.
-
(2001)
Brain
, vol.124
, pp. 1958-1967
-
-
Dubourg, O.1
Tardieu, S.2
Birouk, N.3
-
81
-
-
0033956953
-
Unusual Electrophysiological Findings in X-Linked Dominant Charcot–Marie–Tooth Disease
-
A. Gutierrez, J.D. England, A.J. Sumner, et al. (2000) Unusual Electrophysiological Findings in X-Linked Dominant Charcot–Marie–Tooth Disease. Muscle Nerve 23 182-188.
-
(2000)
Muscle Nerve
, vol.23
, pp. 182-188
-
-
Gutierrez, A.1
England, J.D.2
Sumner, A.J.3
-
82
-
-
16944366517
-
Charcot–Marie–Tooth Disease with Intermediate Motor Nerve Conduction Velocities: Characterization of 14 Cx32 Mutations in 35 Families
-
H. Rouger, E. LeGuern, N. Birouk, et al. (1997) Charcot–Marie–Tooth Disease with Intermediate Motor Nerve Conduction Velocities: Characterization of 14 Cx32 Mutations in 35 Families. Hum. Mutat. 10 443-452.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 443-452
-
-
Rouger, H.1
LeGuern, E.2
Birouk, N.3
-
83
-
-
0032866609
-
Demyelinating X-Linked Charcot–Marie–Tooth Disease: Unusual Electrophysiological Findings
-
F. Tabaraud, E. Lagrange, P. Sindou, et al. (1999) Demyelinating X-Linked Charcot–Marie–Tooth Disease: Unusual Electrophysiological Findings. Muscle Nerve 22 1442-1447.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1442-1447
-
-
Tabaraud, F.1
Lagrange, E.2
Sindou, P.3
-
84
-
-
34047241725
-
CMT1X Phenotypes Represent Loss of GJB1 Gene Function
-
M.E. Shy, C. Siskind, E.R. Swan, K.M. Krajewski, T. Doherty, D.R. Fuerst, P.J. Ainsworth, R.A. Lewis, S.S. Scherer and A.F. Hahn (2007) CMT1X Phenotypes Represent Loss of GJB1 Gene Function. Neurology 68(11), 849-855.
-
(2007)
Neurology
, vol.68
, Issue.11
, pp. 849-855
-
-
Shy, M.E.1
Siskind, C.2
Swan, E.R.3
Krajewski, K.M.4
Doherty, T.5
Fuerst, D.R.6
Ainsworth, P.J.7
Lewis, R.A.8
Scherer, S.S.9
Hahn, A.F.10
-
85
-
-
0030979840
-
Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32
-
P. Anzini, D.H. Neuberg, M. Schachner, et al. (1997) Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32. J. Neurosci. 17 4545-4551.
-
(1997)
J. Neurosci.
, vol.17
, pp. 4545-4551
-
-
Anzini, P.1
Neuberg, D.H.2
Schachner, M.3
-
86
-
-
0036499098
-
Macrophage-Related Demyelination in Peripheral Nerves of Mice Deficient in the Gap Junction Protein Connexin 32
-
I. Kobsar, M. Maurer, T. Ott and R. Martini (2002) Macrophage-Related Demyelination in Peripheral Nerves of Mice Deficient in the Gap Junction Protein Connexin 32. Neurosci. Lett. 20 17-20.
-
(2002)
Neurosci. Lett.
, vol.20
, pp. 17-20
-
-
Kobsar, I.1
Maurer, M.2
Ott, T.3
Martini, R.4
-
88
-
-
0035136847
-
Further Evidence that Neurofilament Light Chain Gene Mutations Can Cause Charcot–Marie–Tooth Disease Type 2E
-
P. De Jonghe, I. Mersivanova, E. Nelis, et al. (2001) Further Evidence that Neurofilament Light Chain Gene Mutations Can Cause Charcot–Marie–Tooth Disease Type 2E. Ann. Neurol. 49 245-249.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 245-249
-
-
De Jonghe, P.1
Mersivanova, I.2
Nelis, E.3
-
89
-
-
0033911099
-
A New Variant of Charcot–Marie–Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene
-
I.V. Mersiyanova, A.V. Perepelov, A.V. Polyakov, et al. (2000) A New Variant of Charcot–Marie–Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene. Am. J. Hum. Genet. 67 37-46.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 37-46
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
-
90
-
-
0037370894
-
Mutations in the Neurofilament Light Chain Gene (NEFL) Cause Early Onset Severe Charcot–Marie–Tooth Disease
-
A. Jordanova, P. De Jonghe, C.F. Boerkoel, et al. (2003) Mutations in the Neurofilament Light Chain Gene (NEFL) Cause Early Onset Severe Charcot–Marie–Tooth Disease. Brain 126 590-597.
-
(2003)
Brain
, vol.126
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
-
91
-
-
0036900365
-
Identification of Novel Sequence Variants in the Neurofilament-Light Gene in a Japanese Population: Analysis of Charcot–Marie–Tooth Disease Patients and Normal Individuals
-
T. Yoshihara, M. Yamamoto, N. Hattori, et al. (2002) Identification of Novel Sequence Variants in the Neurofilament-Light Gene in a Japanese Population: Analysis of Charcot–Marie–Tooth Disease Patients and Normal Individuals. J. Peripher. Nerv. Syst. 7 221-224.
-
(2002)
J. Peripher. Nerv. Syst.
, vol.7
, pp. 221-224
-
-
Yoshihara, T.1
Yamamoto, M.2
Hattori, N.3
-
92
-
-
0037370894
-
Mutations in the Neurofilament Light Chain Gene (NEFL) Cause Early Onset Severe Charcot–Marie–Tooth Disease
-
A. Jordanova, P. De Jonghe, C.F. Boerkoel, H. Takashima, E. De Vriendt, C. Ceuterick, J.J. Martin, I.J. Butler, P. Mancias, S. Papasozomenos, et al. (2003) Mutations in the Neurofilament Light Chain Gene (NEFL) Cause Early Onset Severe Charcot–Marie–Tooth Disease. Brain 126(Pt 3), 590-597.
-
(2003)
Brain
, vol.126
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
Martin, J.J.7
Butler, I.J.8
Mancias, P.9
Papasozomenos, S.10
-
93
-
-
5444267945
-
Phenotypic Analysis of Neurofilament Light Gene Mutations Linked to Charcot–Marie–Tooth Disease in Cell Culture Models
-
R. Perez-Olle, S.T. Jones and R.K. Liem (2004) Phenotypic Analysis of Neurofilament Light Gene Mutations Linked to Charcot–Marie–Tooth Disease in Cell Culture Models. Hum. Mol. Genet. 13 2207-2220.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2207-2220
-
-
Perez-Olle, R.1
Jones, S.T.2
Liem, R.K.3
-
94
-
-
73549086741
-
A Novel Recessive Nefl Mutation Causes a Severe, Early-Onset Axonal Neuropathy
-
S.W. Yum, J. Zhang, K. Mo, J. Li and S.S. Scherer (2009) A Novel Recessive Nefl Mutation Causes a Severe, Early-Onset Axonal Neuropathy. Ann. Neurol. 66(6), 759-770.
-
(2009)
Ann. Neurol.
, vol.66
, Issue.6
, pp. 759-770
-
-
Yum, S.W.1
Zhang, J.2
Mo, K.3
Li, J.4
Scherer, S.S.5
-
95
-
-
0031263931
-
Delayed Maturation of Regenerating Myelinated Axons in Mice Lacking Neurofilaments
-
Q. Zhu, S. Couillard-Despres and J.P. Julien (1997) Delayed Maturation of Regenerating Myelinated Axons in Mice Lacking Neurofilaments. Exp. Neurol. 148 299-316.
-
(1997)
Exp. Neurol.
, vol.148
, pp. 299-316
-
-
Zhu, Q.1
Couillard-Despres, S.2
Julien, J.P.3
-
96
-
-
0028116467
-
A Mutant Neurofilament Subunit Causes Massive, Selective Motor Neuron Death: Implications for the Pathogenesis of Human Motor Neuron Disease
-
M.K. Lee, J.R. Marszalek and D.W. Cleveland (1994) A Mutant Neurofilament Subunit Causes Massive, Selective Motor Neuron Death: Implications for the Pathogenesis of Human Motor Neuron Disease. Neuron 13 975-988.
-
(1994)
Neuron
, vol.13
, pp. 975-988
-
-
Lee, M.K.1
Marszalek, J.R.2
Cleveland, D.W.3
-
97
-
-
0035369084
-
Charcot–Marie–Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bbeta
-
C. Zhao, J. Takita, Y. Tanaka, et al. (2001) Charcot–Marie–Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bbeta. Cell 105 587-597.
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
-
98
-
-
2442589922
-
Mutations in the Mitochondrial GTPase Mitofusin 2 Cause Charcot–Marie–Tooth Neuropathy Type 2A
-
S. Zuchner, I.V. Mersiyanova, M. Muglia, et al. (2004) Mutations in the Mitochondrial GTPase Mitofusin 2 Cause Charcot–Marie–Tooth Neuropathy Type 2A. Nat. Genet. 36 449-451.
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
-
100
-
-
0030221510
-
The Transcription Factors SCIP and Krox-20 Mark Distinct Stages and Cell Fates in Schwann Cell Differentiation
-
T.S. Zorick, D.E. Syroid, E. Arroyo, et al. (1996) The Transcription Factors SCIP and Krox-20 Mark Distinct Stages and Cell Fates in Schwann Cell Differentiation. Mol. Cell. Neurosci. 8 129-145.
-
(1996)
Mol. Cell. Neurosci.
, vol.8
, pp. 129-145
-
-
Zorick, T.S.1
Syroid, D.E.2
Arroyo, E.3
-
101
-
-
0027135790
-
Disruption of Krox-20 Results in Alteration of Rhombomeres 3 and 5 in the Developing Hindbrain
-
S. Schneider-Maunoury, P. Topilko, T. Seitandou, et al. (1993) Disruption of Krox-20 Results in Alteration of Rhombomeres 3 and 5 in the Developing Hindbrain. Cell 75 1199-1214.
-
(1993)
Cell
, vol.75
, pp. 1199-1214
-
-
Schneider-Maunoury, S.1
Topilko, P.2
Seitandou, T.3
-
102
-
-
0027484361
-
Perinatal Lethality and Defects in Hindbrain Development in Mice Homozygous for a Targeted Mutation of the Zinc Finger Gene Krox20
-
P.J. Swiatek and T. Gridley (1993) Perinatal Lethality and Defects in Hindbrain Development in Mice Homozygous for a Targeted Mutation of the Zinc Finger Gene Krox20. Genes. Dev. 7 2071-2084.
-
(1993)
Genes. Dev.
, vol.7
, pp. 2071-2084
-
-
Swiatek, P.J.1
Gridley, T.2
-
103
-
-
0027984497
-
Krox-20 Controls Myelination in the Peripheral Nervous System
-
P. Topilko, S. Schneider-Maunoury, G. Levi, et al. (1994) Krox-20 Controls Myelination in the Peripheral Nervous System. Nature 371 796-799.
-
(1994)
Nature
, vol.371
, pp. 796-799
-
-
Topilko, P.1
Schneider-Maunoury, S.2
Levi, G.3
-
104
-
-
0033208622
-
A Novel Mutation (D305V) in the Early Growth Response 2 Gene Is Associated with Severe Charcot–Marie–Tooth Type 1 Disease
-
E. Bellone, E. Di Maria, S. Soriani, et al. (1999) A Novel Mutation (D305V) in the Early Growth Response 2 Gene Is Associated with Severe Charcot–Marie–Tooth Type 1 Disease. Hum. Mutat. 14 353-354.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 353-354
-
-
Bellone, E.1
Di Maria, E.2
Soriani, S.3
-
105
-
-
0033015744
-
Novel Missense Mutation in the Early Growth Response 2 Gene Associated with Dejerine–Sottas Syndrome Phenotype
-
V. Timmerman, P. De Jonghe, C. Ceuterick, et al. (1999) Novel Missense Mutation in the Early Growth Response 2 Gene Associated with Dejerine–Sottas Syndrome Phenotype. Neurology 52 1827-1832.
-
(1999)
Neurology
, vol.52
, pp. 1827-1832
-
-
Timmerman, V.1
De Jonghe, P.2
Ceuterick, C.3
-
106
-
-
0031943222
-
Mutations in the Early Growth Response 2 (EGR2) Gene Are Associated with Hereditary Myelinopathies
-
L.E. Warner, P. Mancias, I.J. Butler, et al. (1998) Mutations in the Early Growth Response 2 (EGR2) Gene Are Associated with Hereditary Myelinopathies. Nat. Genet. 18 382-384.
-
(1998)
Nat. Genet.
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
-
107
-
-
35449001032
-
Functional, Histopathologic and Natural History Study of Neuropathy Associated with EGR2 Mutations
-
K. Szigeti, W. Wiszniewski, G.M. Saifi, D.L. Sherman, N. Sule, A.M. Adesina, P. Mancias, S. Papasozomenos, G. Miller, L. Keppen, et al. (2007) Functional, Histopathologic and Natural History Study of Neuropathy Associated with EGR2 Mutations. Neurogenetics 8(4), 257-262.
-
(2007)
Neurogenetics
, vol.8
, Issue.4
, pp. 257-262
-
-
Szigeti, K.1
Wiszniewski, W.2
Saifi, G.M.3
Sherman, D.L.4
Sule, N.5
Adesina, A.M.6
Mancias, P.7
Papasozomenos, S.8
Miller, G.9
Keppen, L.10
-
108
-
-
34247554140
-
Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10
-
S.E. LeBlanc, R.M. Ward and J. Svaren (2007) Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10. Mol. Cell. Biol. 27(9), 3521-3529.
-
(2007)
Mol. Cell. Biol.
, vol.27
, Issue.9
, pp. 3521-3529
-
-
LeBlanc, S.E.1
Ward, R.M.2
Svaren, J.3
-
109
-
-
0036894042
-
Congenital Hypomyelinating Neuropathy, Central Dysmyelination, and Waardenburg–Hirschsprung Disease: Phenotypes Linked by SOX10 Mutation
-
K. Inoue, K. Shilo, C.F. Boerkoel, et al. (2002) Congenital Hypomyelinating Neuropathy, Central Dysmyelination, and Waardenburg–Hirschsprung Disease: Phenotypes Linked by SOX10 Mutation. Ann. Neurol. 52 836-842.
-
(2002)
Ann. Neurol.
, vol.52
, pp. 836-842
-
-
Inoue, K.1
Shilo, K.2
Boerkoel, C.F.3
-
110
-
-
0032833425
-
Myelin Deficiencies in Both the Central and the Peripheral Nervous Systems Associated with a SOX10 Mutation
-
K. Inoue, Y. Tanabe and J.R. Lupski (1999) Myelin Deficiencies in Both the Central and the Peripheral Nervous Systems Associated with a SOX10 Mutation. Ann. Neurol. 46 313-318.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 313-318
-
-
Inoue, K.1
Tanabe, Y.2
Lupski, J.R.3
-
111
-
-
17344366171
-
SOX10 Mutations in Patients with Waardenburg–Hirschsprung Disease
-
V. Pingault, N. Bondurand, K. Kuhlbrodt, et al. (1998) SOX10 Mutations in Patients with Waardenburg–Hirschsprung Disease. Nat. Genet. 18 171-173.
-
(1998)
Nat. Genet.
, vol.18
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
-
112
-
-
79952762905
-
Regulation of the PMP22 Gene through an Intronic Enhancer
-
E.A. Jones, C. Lopez-Anido, R. Srinivasan, C. Krueger, L.W. Chang, R. Nagarajan and J. Svaren (2011) Regulation of the PMP22 Gene through an Intronic Enhancer. J. Neurosci. 31(11), 4242-4250.
-
(2011)
J. Neurosci.
, vol.31
, Issue.11
, pp. 4242-4250
-
-
Jones, E.A.1
Lopez-Anido, C.2
Srinivasan, R.3
Krueger, C.4
Chang, L.W.5
Nagarajan, R.6
Svaren, J.7
-
113
-
-
0035121784
-
Periaxin Mutations Cause Recessive Dejerine–Sottas Neuropathy
-
C.F. Boerkoel, H. Takashima, P. Stankiewicz, et al. (2001) Periaxin Mutations Cause Recessive Dejerine–Sottas Neuropathy. Am. J. Hum. Genet. 68 325-333.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 325-333
-
-
Boerkoel, C.F.1
Takashima, H.2
Stankiewicz, P.3
-
114
-
-
0035864930
-
A Mutation in Periaxin Is Responsible for CMT4F, an Autosomal Recessive form of Charcot–Marie–Tooth Disease
-
A. Guilbot, A. Williams, N. Ravise, et al. (2001) A Mutation in Periaxin Is Responsible for CMT4F, an Autosomal Recessive form of Charcot–Marie–Tooth Disease. Hum. Mol. Genet. 10 415-421.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 415-421
-
-
Guilbot, A.1
Williams, A.2
Ravise, N.3
-
115
-
-
0036267227
-
Periaxin Mutations Cause a Broad Spectrum of Demyelinating Neuropathies
-
H. Takashima, C.F. Boerkoel, P. De Jonghe, et al. (2002) Periaxin Mutations Cause a Broad Spectrum of Demyelinating Neuropathies. Ann. Neurol. 51 709-715.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 709-715
-
-
Takashima, H.1
Boerkoel, C.F.2
De Jonghe, P.3
-
116
-
-
78650015297
-
Four Novel Cases of Periaxin-Related Neuropathy and Review of the Literature
-
C. Marchesi, M. Milani, M. Morbin, M. Cesani, G. Lauria, V. Scaioli, G. Piccolo, G.M. Fabrizi, T. Cavallaro, F. Taroni, et al. (2010) Four Novel Cases of Periaxin-Related Neuropathy and Review of the Literature. Neurology 75(20), 1830-1838.
-
(2010)
Neurology
, vol.75
, Issue.20
, pp. 1830-1838
-
-
Marchesi, C.1
Milani, M.2
Morbin, M.3
Cesani, M.4
Lauria, G.5
Scaioli, V.6
Piccolo, G.7
Fabrizi, G.M.8
Cavallaro, T.9
Taroni, F.10
-
117
-
-
3843074032
-
Periaxin Mutation Causes Early-Onset but Slow-Progressive Charcot–Marie–Tooth Disease
-
K. Kijima, C. Numakura, E. Shirahata, et al. (2004) Periaxin Mutation Causes Early-Onset but Slow-Progressive Charcot–Marie–Tooth Disease. J. Hum. Genet. 49 376-379.
-
(2004)
J. Hum. Genet.
, vol.49
, pp. 376-379
-
-
Kijima, K.1
Numakura, C.2
Shirahata, E.3
-
118
-
-
0032489463
-
Two PDZ Domain Proteins Encoded by the Murine Periaxin Gene Are the Result of Alternative Intron Retention and Are Differentially Targeted in Schwann Cells
-
L. Dytrych, D.L. Sherman, C.S. Gillespie and P.J. Brophy (1998) Two PDZ Domain Proteins Encoded by the Murine Periaxin Gene Are the Result of Alternative Intron Retention and Are Differentially Targeted in Schwann Cells. J. Biol. Chem. 273 5794-5800.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 5794-5800
-
-
Dytrych, L.1
Sherman, D.L.2
Gillespie, C.S.3
Brophy, P.J.4
-
119
-
-
0034681351
-
A Tripartite Nuclear Localization Signal in the PDZ-Domain Protein L-Periaxin
-
D.L. Sherman and P.J. Brophy (2000) A Tripartite Nuclear Localization Signal in the PDZ-Domain Protein L-Periaxin. J. Biol. Chem. 275 4537-4540.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 4537-4540
-
-
Sherman, D.L.1
Brophy, P.J.2
-
120
-
-
0028204901
-
Periaxin, a Novel Protein of Myelinating Schwann Cells with a Possible Role in Axonal Ensheathment
-
C.S. Gillespie, D.L. Sherman, G.E. Blair and P.J. Brophy (1994) Periaxin, a Novel Protein of Myelinating Schwann Cells with a Possible Role in Axonal Ensheathment. Neuron 12 497-508.
-
(1994)
Neuron
, vol.12
, pp. 497-508
-
-
Gillespie, C.S.1
Sherman, D.L.2
Blair, G.E.3
Brophy, P.J.4
-
121
-
-
0033681225
-
Peripheral Demyelination and Neuropathic Pain Behavior in Periaxin-Deficient Mice
-
C.S. Gillespie, D.L. Sherman, S.M. Fleetwood-Walker, et al. (2000) Peripheral Demyelination and Neuropathic Pain Behavior in Periaxin-Deficient Mice. Neuron 26 523-531.
-
(2000)
Neuron
, vol.26
, pp. 523-531
-
-
Gillespie, C.S.1
Sherman, D.L.2
Fleetwood-Walker, S.M.3
-
122
-
-
0035290654
-
Denaturing High-Performance Liquid Chromatography of the Myotubularin-Related 2 Gene (MTMR2) in Unrelated Patients with Charcot–Marie–Tooth Disease Suggests a Low Frequency of Mutation in Inherited Neuropathy
-
A. Bolino, L.J. Lonie, M. Zimmer, et al. (2001) Denaturing High-Performance Liquid Chromatography of the Myotubularin-Related 2 Gene (MTMR2) in Unrelated Patients with Charcot–Marie–Tooth Disease Suggests a Low Frequency of Mutation in Inherited Neuropathy. Neurogenetics 3 107-109.
-
(2001)
Neurogenetics
, vol.3
, pp. 107-109
-
-
Bolino, A.1
Lonie, L.J.2
Zimmer, M.3
-
123
-
-
0034062698
-
Charcot–Marie–Tooth Type 4B Is Caused by Mutations in the Gene Encoding Myotubularin-Related Protein-2
-
A. Bolino, M. Muglia, F.L. Conforti, E. LeGuern, M.A. Salih, D.M. Georgiou, K. Christodoulou, I. Hausmanowa-Petrusewicz, P. Mandich, A. Schenone, et al. (2000) Charcot–Marie–Tooth Type 4B Is Caused by Mutations in the Gene Encoding Myotubularin-Related Protein-2. Nat. Genet. 25(1), 17-19.
-
(2000)
Nat. Genet.
, vol.25
, Issue.1
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.5
Georgiou, D.M.6
Christodoulou, K.7
Hausmanowa-Petrusewicz, I.8
Mandich, P.9
Schenone, A.10
-
124
-
-
0037040182
-
Myotubularin and MTMR2, Phosphatidylinositol 3-Phosphatases Mutated in Myotubular Myopathy and Type 4B Charcot–Marie–Tooth Disease
-
S.A. Kim, G.S. Taylor, K.M. Torgersen and J.E. Dixon (2002) Myotubularin and MTMR2, Phosphatidylinositol 3-Phosphatases Mutated in Myotubular Myopathy and Type 4B Charcot–Marie–Tooth Disease. J. Biol. Chem. 277 4526-4531.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 4526-4531
-
-
Kim, S.A.1
Taylor, G.S.2
Torgersen, K.M.3
Dixon, J.E.4
-
125
-
-
0037096759
-
Loss of Phosphatase Activity in Myotubularin-Related Protein 2 Is Associated with Charcot–Marie–Tooth Disease Type 4B1
-
P. Berger, S. Bonneick, S. Willi, et al. (2002) Loss of Phosphatase Activity in Myotubularin-Related Protein 2 Is Associated with Charcot–Marie–Tooth Disease Type 4B1. Hum. Mol. Genet. 11 1569-1579.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1569-1579
-
-
Berger, P.1
Bonneick, S.2
Willi, S.3
-
126
-
-
28744436993
-
An animal model for Charcot–Marie–Tooth disease type 4B1
-
S. Bonneick, M. Boentert, P. Berger, S. Atanasoski, N. Mantei, C. Wessig, K.V. Toyka, P. Young and U. Suter (2005) An animal model for Charcot–Marie–Tooth disease type 4B1. Hum. Mol. Genet. 14(23), 3685-3695.
-
(2005)
Hum. Mol. Genet.
, vol.14
, Issue.23
, pp. 3685-3695
-
-
Bonneick, S.1
Boentert, M.2
Berger, P.3
Atanasoski, S.4
Mantei, N.5
Wessig, C.6
Toyka, K.V.7
Young, P.8
Suter, U.9
-
127
-
-
0037322882
-
Mutation of the SBF2 Gene, Encoding a Novel Member of the Myotubularin Family, in Charcot–Marie–Tooth Neuropathy Type 4B2/11p15
-
J. Senderek, C. Bergmann, S. Weber, U.P. Ketelsen, H. Schorle, S. Rudnik-Schoneborn, R. Buttner, E. Buchheim and K. Zerres (2003) Mutation of the SBF2 Gene, Encoding a Novel Member of the Myotubularin Family, in Charcot–Marie–Tooth Neuropathy Type 4B2/11p15. Hum. Mol. Genet. 12(3), 349-356.
-
(2003)
Hum. Mol. Genet.
, vol.12
, Issue.3
, pp. 349-356
-
-
Senderek, J.1
Bergmann, C.2
Weber, S.3
Ketelsen, U.P.4
Schorle, H.5
Rudnik-Schoneborn, S.6
Buttner, R.7
Buchheim, E.8
Zerres, K.9
-
128
-
-
0033838030
-
Hereditary Motor and Sensory Neuropathy with Myelin Folding and Juvenile Onset Glaucoma
-
T. Kiwaki, F. Umehara, H. Takashima, et al. (2000) Hereditary Motor and Sensory Neuropathy with Myelin Folding and Juvenile Onset Glaucoma. Neurology 55 392-397.
-
(2000)
Neurology
, vol.55
, pp. 392-397
-
-
Kiwaki, T.1
Umehara, F.2
Takashima, H.3
-
129
-
-
3543095095
-
SET Binding Factor 2 (SBF2) Mutation Causes CMT4B with Juvenile Onset Glaucoma
-
R. Hirano, H. Takashima, F. Umehara, et al. (2004) SET Binding Factor 2 (SBF2) Mutation Causes CMT4B with Juvenile Onset Glaucoma. Neurology 63 577-580.
-
(2004)
Neurology
, vol.63
, pp. 577-580
-
-
Hirano, R.1
Takashima, H.2
Umehara, F.3
-
130
-
-
0033910767
-
N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy-Lom
-
L. Kalaydjieva, D. Gresham, R. Gooding, et al. (2000) N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy-Lom. Am. J. Hum. Genet. 67 47-58.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
-
131
-
-
16044365767
-
Gene Mapping in Gypsies Identifies a Novel Demyelinating Neuropathy on Chromosome 8q24
-
L. Kalaydjieva, J. Hallmayer, D. Chandler, et al. (1996) Gene Mapping in Gypsies Identifies a Novel Demyelinating Neuropathy on Chromosome 8q24. Nat. Genet. 14 214-217.
-
(1996)
Nat. Genet.
, vol.14
, pp. 214-217
-
-
Kalaydjieva, L.1
Hallmayer, J.2
Chandler, D.3
-
132
-
-
0030600533
-
Molecular Cloning and Expression Analysis of the Human Rab7 GTP-ase Complementary Deoxyribonucleic Acid
-
R. Vitelli, M. Chiariello, D. Lattero, et al. (1996) Molecular Cloning and Expression Analysis of the Human Rab7 GTP-ase Complementary Deoxyribonucleic Acid. Biochem. Biophys. Res. Commun. 229 887-890.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.229
, pp. 887-890
-
-
Vitelli, R.1
Chiariello, M.2
Lattero, D.3
-
133
-
-
28044444522
-
The Small GTPase Rab7 Controls the Endosomal Trafficking and Neuritogenic Signaling of the Nerve Growth Factor Receptor TrkA
-
S. Saxena, C. Bucci, J. Weis and A. Kruttgen (2005) The Small GTPase Rab7 Controls the Endosomal Trafficking and Neuritogenic Signaling of the Nerve Growth Factor Receptor TrkA. J. Neurosci. 25(47), 10930-10940.
-
(2005)
J. Neurosci.
, vol.25
, Issue.47
, pp. 10930-10940
-
-
Saxena, S.1
Bucci, C.2
Weis, J.3
Kruttgen, A.4
-
134
-
-
39549098329
-
Functional Characterization of Rab7 Mutant Proteins Associated with Charcot–Marie–Tooth Type 2B Disease
-
M.R. Spinosa, C. Progida, A. De Luca, A.M. Colucci, P. Alifano and C. Bucci (2008) Functional Characterization of Rab7 Mutant Proteins Associated with Charcot–Marie–Tooth Type 2B Disease. J. Neurosci. 28(7), 1640-1648.
-
(2008)
J. Neurosci.
, vol.28
, Issue.7
, pp. 1640-1648
-
-
Spinosa, M.R.1
Progida, C.2
De Luca, A.3
Colucci, A.M.4
Alifano, P.5
Bucci, C.6
-
135
-
-
0037371509
-
Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot–Marie–Tooth Type 2B Neuropathy
-
K. Verhoeven, P. De Jonghe, K. Coen, et al. (2003) Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot–Marie–Tooth Type 2B Neuropathy. Am. J. Hum. Genet. 72 722-727.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 722-727
-
-
Verhoeven, K.1
De Jonghe, P.2
Coen, K.3
-
136
-
-
33748309354
-
Spine Deformities in Charcot–Marie–Tooth 4C Caused by SH3TC2 Gene Mutations
-
H. Azzedine, N. Ravise, C. Verny, A. Gabreels-Festen, M. Lammens, D. Grid, J.M. Vallat, G. Durosier, J. Senderek, S. Nouioua, et al. (2006) Spine Deformities in Charcot–Marie–Tooth 4C Caused by SH3TC2 Gene Mutations. Neurology 67(4), 602-606.
-
(2006)
Neurology
, vol.67
, Issue.4
, pp. 602-606
-
-
Azzedine, H.1
Ravise, N.2
Verny, C.3
Gabreels-Festen, A.4
Lammens, M.5
Grid, D.6
Vallat, J.M.7
Durosier, G.8
Senderek, J.9
Nouioua, S.10
-
137
-
-
77950620209
-
Mistargeting of SH3TC2 Away from the Recycling Endosome Causes Charcot–Marie–Tooth Disease Type 4C
-
202
-
R.C. Roberts, A.A. Peden, F. Buss, N.A. Bright, M. Latouche, M.M. Reilly, J. Kendrick-Jones and J.P. Luzio (2010) Mistargeting of SH3TC2 Away from the Recycling Endosome Causes Charcot–Marie–Tooth Disease Type 4C. Hum. Mol. Genet. 19(6), 1009-1018. 202
-
(2010)
Hum. Mol. Genet.
, vol.19
, Issue.6
, pp. 1009-1018
-
-
Roberts, R.C.1
Peden, A.A.2
Buss, F.3
Bright, N.A.4
Latouche, M.5
Reilly, M.M.6
Kendrick-Jones, J.7
Luzio, J.P.8
-
138
-
-
77957026995
-
SH3TC2, a Protein Mutant in Charcot–Marie–Tooth Neuropathy, Links Peripheral Nerve Myelination to Endosomal Recycling
-
C. Stendel, A. Roos, H. Kleine, E. Arnaud, M. Ozcelik, P.N. Sidiropoulos, J. Zenker, F. Schupfer, U. Lehmann, R.M. Sobota, et al. (2010) SH3TC2, a Protein Mutant in Charcot–Marie–Tooth Neuropathy, Links Peripheral Nerve Myelination to Endosomal Recycling. Brain 133(Pt 8), 2462-2474.
-
(2010)
Brain
, vol.133
, pp. 2462-2474
-
-
Stendel, C.1
Roos, A.2
Kleine, H.3
Arnaud, E.4
Ozcelik, M.5
Sidiropoulos, P.N.6
Zenker, J.7
Schupfer, F.8
Lehmann, U.9
Sobota, R.M.10
-
139
-
-
77950475726
-
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
-
J.R. Lupski, J.G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D.C. Chen, L. Nazareth, M. Bainbridge, H. Dinh, C. Jing, D.A. Wheeler, et al. (2010) Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy. N. Engl. J. Med. 362(13), 1181-1191.
-
(2010)
N. Engl. J. Med.
, vol.362
, Issue.13
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
Bainbridge, M.7
Dinh, H.8
Jing, C.9
Wheeler, D.A.10
-
140
-
-
49449098975
-
Mutation of FIG4 Causes a Rapidly Progressive, Asymmetric Neuronal Degeneration
-
X. Zhang, C.Y. Chow, Z. Sahenk, M.E. Shy, M.H. Meisler and J. Li (2008) Mutation of FIG4 Causes a Rapidly Progressive, Asymmetric Neuronal Degeneration. Brain 131(Pt 8), 1990-2001.
-
(2008)
Brain
, vol.131
, pp. 1990-2001
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
Shy, M.E.4
Meisler, M.H.5
Li, J.6
-
141
-
-
36248956630
-
Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System
-
A. Bolis, P. Zordan, S. Coviello and A. Bolino (2007) Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System. Mol. Neurobiol. 35(3), 308-316.
-
(2007)
Mol. Neurobiol.
, vol.35
, Issue.3
, pp. 308-316
-
-
Bolis, A.1
Zordan, P.2
Coviello, S.3
Bolino, A.4
-
142
-
-
0035933717
-
Mycobacterium Bovis Bacillus Calmette–Guerin and its Cell Wall Complex Induce a Novel Lysosomal Membrane Protein, SIMPLE, that Bridges the Missing Link between Lipopolysaccharide and p53-Inducible Gene, LITAF(PIG7), and Estrogen-Inducible Gene, EET-1
-
Y. Moriwaki, N.A. Begum, M. Kobayashi, et al. (2001) Mycobacterium Bovis Bacillus Calmette–Guerin and its Cell Wall Complex Induce a Novel Lysosomal Membrane Protein, SIMPLE, that Bridges the Missing Link between Lipopolysaccharide and p53-Inducible Gene, LITAF(PIG7), and Estrogen-Inducible Gene, EET-1. J. Biol. Chem. 276 23065-23076.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 23065-23076
-
-
Moriwaki, Y.1
Begum, N.A.2
Kobayashi, M.3
-
143
-
-
79951530804
-
SIMPLE/LITAF Expression Induces the Translocation of the Ubiquitin Ligase Itch Towards the Lysosomal Compartments
-
H.E. Eaton, G. Desrochers, S.B. Drory, J. Metcalf, A. Angers and C.R. Brunetti (2011) SIMPLE/LITAF Expression Induces the Translocation of the Ubiquitin Ligase Itch Towards the Lysosomal Compartments. PLoS ONE 6(2), e16873.
-
(2011)
PLoS ONE
, vol.6
, Issue.2
, pp. e16873
-
-
Eaton, H.E.1
Desrochers, G.2
Drory, S.B.3
Metcalf, J.4
Angers, A.5
Brunetti, C.R.6
-
144
-
-
27744474225
-
SIMPLE Interacts with NEDD4 and TSG101: Evidence for a Role in Lysosomal Sorting and Implications for Charcot–Marie–Tooth Disease
-
A.J. Shirk, S.K. Anderson, S.H. Hashemi, P.F. Chance and C.L. Bennett (2005) SIMPLE Interacts with NEDD4 and TSG101: Evidence for a Role in Lysosomal Sorting and Implications for Charcot–Marie–Tooth Disease. J. Neurosci. Res. 82(1), 43-50.
-
(2005)
J. Neurosci. Res.
, vol.82
, Issue.1
, pp. 43-50
-
-
Shirk, A.J.1
Anderson, S.K.2
Hashemi, S.H.3
Chance, P.F.4
Bennett, C.L.5
-
145
-
-
20244367606
-
SIMPLE Mutations in Charcot–Marie–Tooth Disease and the Potential Role of Its Protein Product in Protein Degradation
-
G.M. Saifi, K. Szigeti, W. Wiszniewski, et al. (2005) SIMPLE Mutations in Charcot–Marie–Tooth Disease and the Potential Role of Its Protein Product in Protein Degradation. Hum. Mutat. 25 372-383.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 372-383
-
-
Saifi, G.M.1
Szigeti, K.2
Wiszniewski, W.3
-
146
-
-
0036138107
-
Mapping of Charcot–Marie–Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies
-
V.A. Street, J.D. Goldy, A.S. Golden, et al. (2002) Mapping of Charcot–Marie–Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies. Am. J. Hum. Genet. 70 244-250.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 244-250
-
-
Street, V.A.1
Goldy, J.D.2
Golden, A.S.3
-
147
-
-
33745139797
-
SIMPLE Mutation Analysis in Dominant Demyelinating Charcot–Marie–Tooth Disease: Three Novel Mutations
-
P. Latour, P.M. Gonnaud, E. Ollagnon, V. Chan, S. Perelman, T. Stojkovic, C. Stoll, C. Vial, F. Ziegler, A. Vandenberghe, et al. (2006) SIMPLE Mutation Analysis in Dominant Demyelinating Charcot–Marie–Tooth Disease: Three Novel Mutations. J. Peripher. Nerv. Syst. 11(2), 148-155.
-
(2006)
J. Peripher. Nerv. Syst.
, vol.11
, Issue.2
, pp. 148-155
-
-
Latour, P.1
Gonnaud, P.M.2
Ollagnon, E.3
Chan, V.4
Perelman, S.5
Stojkovic, T.6
Stoll, C.7
Vial, C.8
Ziegler, F.9
Vandenberghe, A.10
-
148
-
-
0032970896
-
Isolation of 10 Differentially Expressed cDNAs in Differentiated Neuro2a Cells Induced through Controlled Expression of the GD3 Synthase Gene
-
H. Liu, T. Nakagawa, T. Kanematsu, et al. (1999) Isolation of 10 Differentially Expressed cDNAs in Differentiated Neuro2a Cells Induced through Controlled Expression of the GD3 Synthase Gene. J. Neurochem. 72 1781-1790.
-
(1999)
J. Neurochem.
, vol.72
, pp. 1781-1790
-
-
Liu, H.1
Nakagawa, T.2
Kanematsu, T.3
-
149
-
-
18544388962
-
The Gene Encoding Ganglioside-Induced Differentiation-Associated Protein 1 Is Mutated in Axonal Charcot–Marie–Tooth Type 4A Disease
-
A. Cuesta, L. Pedrola, T. Sevilla, et al. (2002) The Gene Encoding Ganglioside-Induced Differentiation-Associated Protein 1 Is Mutated in Axonal Charcot–Marie–Tooth Type 4A Disease. Nat. Genet. 30 22-25.
-
(2002)
Nat. Genet.
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
-
150
-
-
18544385024
-
Ganglioside-Induced Differentiation-Associated Protein-1 Is Mutant in Charcot–Marie–Tooth Disease Type 4A/8q21
-
R.V. Baxter, K. Ben Othmane, J.M. Rochelle, et al. (2002) Ganglioside-Induced Differentiation-Associated Protein-1 Is Mutant in Charcot–Marie–Tooth Disease Type 4A/8q21. Nat. Genet. 30 21-22.
-
(2002)
Nat. Genet.
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
151
-
-
0037371253
-
CMT4A: Identification of a Hispanic GDAP1 Founder Mutation
-
C.F. Boerkoel, H. Takashima, M. Nakagawa, et al. (2003) CMT4A: Identification of a Hispanic GDAP1 Founder Mutation. Ann. Neurol. 53 400-405.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 400-405
-
-
Boerkoel, C.F.1
Takashima, H.2
Nakagawa, M.3
-
152
-
-
20244374986
-
Genetics of Charcot–Marie–Tooth Disease Type 4A: Mutations, Inheritance, Phenotypic Variability, and Founder Effect
-
R. Claramunt, L. Pedrola, T. Sevilla, A. Lopez de Munain, J. Berciano, A. Cuesta, B. Sanchez-Navarro, J.M. Millan, G.M. Saifi, J.R. Lupski, et al. (2005) Genetics of Charcot–Marie–Tooth Disease Type 4A: Mutations, Inheritance, Phenotypic Variability, and Founder Effect. J. Med. Genet. 42(4), 358-365.
-
(2005)
J. Med. Genet.
, vol.42
, Issue.4
, pp. 358-365
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
Lopez de Munain, A.4
Berciano, J.5
Cuesta, A.6
Sanchez-Navarro, B.7
Millan, J.M.8
Saifi, G.M.9
Lupski, J.R.10
-
153
-
-
0037168759
-
Mutations in GDAP1: Autosomal Recessive CMT with Demyelination and Axonopathy
-
E. Nelis, S. Erdem, P.Y. Van Den Bergh, M.C. Belpaire-Dethiou, C. Ceuterick, V. Van Gerwen, A. Cuesta, L. Pedrola, F. Palau, A.A. Gabreels-Festen, et al. (2002) Mutations in GDAP1: Autosomal Recessive CMT with Demyelination and Axonopathy. Neurology 59(12), 1865-1872.
-
(2002)
Neurology
, vol.59
, Issue.12
, pp. 1865-1872
-
-
Nelis, E.1
Erdem, S.2
Van Den Bergh, P.Y.3
Belpaire-Dethiou, M.C.4
Ceuterick, C.5
Van Gerwen, V.6
Cuesta, A.7
Pedrola, L.8
Palau, F.9
Gabreels-Festen, A.A.10
-
154
-
-
67649652022
-
Novel Mutations in the GDAP1 Gene in Patients Affected with Early-Onset Axonal Charcot–Marie–Tooth Type 4A
-
I. Moroni, M. Morbin, M. Milani, C. Ciano, M. Bugiani, E. Pagliano, T. Cavallaro, D. Pareyson and F. Taroni (2009) Novel Mutations in the GDAP1 Gene in Patients Affected with Early-Onset Axonal Charcot–Marie–Tooth Type 4A. Neuromuscul. Disord. 19(7), 476-480.
-
(2009)
Neuromuscul. Disord.
, vol.19
, Issue.7
, pp. 476-480
-
-
Moroni, I.1
Morbin, M.2
Milani, M.3
Ciano, C.4
Bugiani, M.5
Pagliano, E.6
Cavallaro, T.7
Pareyson, D.8
Taroni, F.9
-
155
-
-
79953311631
-
Inherited Mitochondrial Neuropathies
-
J. Finsterer (2011) Inherited Mitochondrial Neuropathies. J. Neurol. Sci. 304(1-2), 9-16.
-
(2011)
J. Neurol. Sci.
, vol.304
, Issue.1-2
, pp. 9-16
-
-
Finsterer, J.1
-
156
-
-
70350348361
-
GDAP1 Mutations Differ in their Effects on Mitochondrial Dynamics and Apoptosis Depending on the Mode of Inheritance
-
A. Niemann, K.M. Wagner, M. Ruegg and U. Suter (2009) GDAP1 Mutations Differ in their Effects on Mitochondrial Dynamics and Apoptosis Depending on the Mode of Inheritance. Neurobiol. Dis. 36(3), 509-520.
-
(2009)
Neurobiol. Dis.
, vol.36
, Issue.3
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
157
-
-
33746239182
-
A New POLG1 Mutation with Peo and Severe Axonal and Demyelinating Sensory-Motor Neuropathy
-
L. Santoro, F. Manganelli, R. Lanzillo, A. Tessa, F. Barbieri, F. Pierelli, G. Di Giacinto, V. Nigro and F.M. Santorelli (2006) A New POLG1 Mutation with Peo and Severe Axonal and Demyelinating Sensory-Motor Neuropathy. J. Neurol 253(7), 869-874.
-
(2006)
J. Neurol
, vol.253
, Issue.7
, pp. 869-874
-
-
Santoro, L.1
Manganelli, F.2
Lanzillo, R.3
Tessa, A.4
Barbieri, F.5
Pierelli, F.6
Di Giacinto, G.7
Nigro, V.8
Santorelli, F.M.9
-
158
-
-
33747872317
-
Early Onset Severe and Late-Onset Mild Charcot–Marie–Tooth Disease with Mitofusin 2 (MFN2)
-
K.W. Chung, S.B. Kim, K.D. Park, K.G. Choi, J.H. Lee, H.W. Eun, J.S. Suh, J.H. Hwang, W.K. Kim, B.C. Seo, et al. (2006) Early Onset Severe and Late-Onset Mild Charcot–Marie–Tooth Disease with Mitofusin 2 (MFN2). Mutations Brain 129(Pt 8), 2103-2118.
-
(2006)
Mutations Brain
, vol.129
, pp. 2103-2118
-
-
Chung, K.W.1
Kim, S.B.2
Park, K.D.3
Choi, K.G.4
Lee, J.H.5
Eun, H.W.6
Suh, J.S.7
Hwang, J.H.8
Kim, W.K.9
Seo, B.C.10
-
159
-
-
33747884623
-
MFN2 Mutation Distribution and Genotype/Phenotype Correlation in Charcot–Marie–Tooth Type 2
-
K. Verhoeven, K.G. Claeys, S. Zuchner, J.M. Schroder, J. Weis, C. Ceuterick, A. Jordanova, E. Nelis, E. De Vriendt, M. Van Hul, et al. (2006) MFN2 Mutation Distribution and Genotype/Phenotype Correlation in Charcot–Marie–Tooth Type 2. Brain 129(Pt 8), 2093-2102.
-
(2006)
Brain
, vol.129
, pp. 2093-2102
-
-
Verhoeven, K.1
Claeys, K.G.2
Zuchner, S.3
Schroder, J.M.4
Weis, J.5
Ceuterick, C.6
Jordanova, A.7
Nelis, E.8
De Vriendt, E.9
Van Hul, M.10
-
160
-
-
19944425973
-
Mitochondrial GTPase Mitofusin 2 Mutation in Charcot–Marie–Tooth Neuropathy Type 2A
-
K. Kijima, C. Numakura, H. Izumino, et al. (2004) Mitochondrial GTPase Mitofusin 2 Mutation in Charcot–Marie–Tooth Neuropathy Type 2A. Hum. Genet. 116 23-27.
-
(2004)
Hum. Genet.
, vol.116
, pp. 23-27
-
-
Kijima, K.1
Numakura, C.2
Izumino, H.3
-
161
-
-
68949163080
-
Ca2+-Dependent Regulation of Mitochondrial Dynamics by the Miro–Milton Complex
-
X. Liu and G. Hajnoczky (2009) Ca2+-Dependent Regulation of Mitochondrial Dynamics by the Miro–Milton Complex. Int. J. Biochem. Cell. Biol. 41(10), 1972-1976.
-
(2009)
Int. J. Biochem. Cell. Biol.
, vol.41
, Issue.10
, pp. 1972-1976
-
-
Liu, X.1
Hajnoczky, G.2
-
162
-
-
68249142763
-
[Ultrastructural Lesions of Axonal Mitochondria in Patients with Childhood-Onset Charcot–Marie–Tooth Disease due to MFN2 Mutations]
-
[discussion 160–161]
-
B. Funalot, C. Magdelaine, F. Sturtz, R. Ouvrier and J.M. Vallat (2009) [Ultrastructural Lesions of Axonal Mitochondria in Patients with Childhood-Onset Charcot–Marie–Tooth Disease due to MFN2 Mutations]. Bull. Acad. Natl. Med. 193(1), 151-160. [discussion 160–161]
-
(2009)
Bull. Acad. Natl. Med.
, vol.193
, Issue.1
, pp. 151-160
-
-
Funalot, B.1
Magdelaine, C.2
Sturtz, F.3
Ouvrier, R.4
Vallat, J.M.5
-
163
-
-
38349185051
-
Hindlimb Gait Defects Due to Motor Axon Loss and Reduced Distal Muscles in a Transgenic Mouse Model of Charcot–Marie–Tooth Type 2A
-
S.A. Detmer, C. Vande Velde, D.W. Cleveland and D.C. Chan (2008) Hindlimb Gait Defects Due to Motor Axon Loss and Reduced Distal Muscles in a Transgenic Mouse Model of Charcot–Marie–Tooth Type 2A. Hum. Mol. Genet. 17(3), 367-375.
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.3
, pp. 367-375
-
-
Detmer, S.A.1
Vande Velde, C.2
Cleveland, D.W.3
Chan, D.C.4
-
164
-
-
2642563501
-
Mutant Small Heat-Hock Protein 27 Causes Axonal Charcot–Marie–Tooth Disease and Distal Hereditary Motor Neuropathy
-
O.V. Evgrafov, I. Mersiyanova, J. Irobi, et al. (2004) Mutant Small Heat-Hock Protein 27 Causes Axonal Charcot–Marie–Tooth Disease and Distal Hereditary Motor Neuropathy. Nat. Genet. 36 602-606.
-
(2004)
Nat. Genet.
, vol.36
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
-
165
-
-
19944433659
-
Small Heat-Shock Protein 22 Mutated in Autosomal Dominant Charcot–Marie–Tooth Disease Type 2L
-
B.S. Tang, G.H. Zhao, W. Luo, et al. (2004) Small Heat-Shock Protein 22 Mutated in Autosomal Dominant Charcot–Marie–Tooth Disease Type 2L. Hum. Genet. 116 222-224.
-
(2004)
Hum. Genet.
, vol.116
, pp. 222-224
-
-
Tang, B.S.1
Zhao, G.H.2
Luo, W.3
-
166
-
-
0035920143
-
HSP22, a New Member of the Small Heat Shock Protein Superfamily, Interacts with Mimic of Phosphorylated HSP27 ((3D)HSP27)
-
R. Benndorf, X. Sun, R.R. Gilmont, et al. (2001) HSP22, a New Member of the Small Heat Shock Protein Superfamily, Interacts with Mimic of Phosphorylated HSP27 ((3D)HSP27). J. Biol. Chem. 276 26753-26761.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 26753-26761
-
-
Benndorf, R.1
Sun, X.2
Gilmont, R.R.3
-
167
-
-
0033569666
-
Yeast Gene for a Tyr-DNA Phosphodiesterase that Repairs Topoisomerase I Complexes
-
J.J. Pouliot, K.C. Yao, C.A. Robertson and H.A. Nash (1999) Yeast Gene for a Tyr-DNA Phosphodiesterase that Repairs Topoisomerase I Complexes. Science 286 552-555.
-
(1999)
Science
, vol.286
, pp. 552-555
-
-
Pouliot, J.J.1
Yao, K.C.2
Robertson, C.A.3
Nash, H.A.4
-
168
-
-
0037178839
-
Conversion of Phosphoglycolate to Phosphate termini on 3′ Overhangs of DNA Double Strand Breaks by the Human Tyrosyl-DNA Phosphodiesterase hTdp1
-
K.V. Inamdar, J.J. Pouliot, T. Zhou, et al. (2002) Conversion of Phosphoglycolate to Phosphate termini on 3′ Overhangs of DNA Double Strand Breaks by the Human Tyrosyl-DNA Phosphodiesterase hTdp1. J. Biol. Chem. 277 27162-27168.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 27162-27168
-
-
Inamdar, K.V.1
Pouliot, J.J.2
Zhou, T.3
-
169
-
-
0035834150
-
The Tyrosyl-DNA Phosphodiesterase Tdp1 is a Member of the Phospholipase D Superfamily
-
H. Interthal, J.J. Pouliot and J.J. Champoux (2001) The Tyrosyl-DNA Phosphodiesterase Tdp1 is a Member of the Phospholipase D Superfamily. Proc. Natl. Acad. Sci. U.S.A. 98 12009-12014.
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 12009-12014
-
-
Interthal, H.1
Pouliot, J.J.2
Champoux, J.J.3
-
170
-
-
18644386254
-
Mutation of TDP1, Encoding a Topoisomerase I-Dependent DNA Damage Repair Enzyme, in Spinocerebellar Ataxia with Axonal Neuropathy
-
H. Takashima, C.F. Boerkoel, J. John, et al. (2002) Mutation of TDP1, Encoding a Topoisomerase I-Dependent DNA Damage Repair Enzyme, in Spinocerebellar Ataxia with Axonal Neuropathy. Nat. Genet. 32 267-272.
-
(2002)
Nat. Genet.
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
-
171
-
-
14544268980
-
Defective DNA Single-Strand Break Repair in Spinocerebellar Ataxia with Axonal Neuropathy-1
-
S.F. El-Khamisy, G.M. Saifi, M. Weinfeld, et al. (2005) Defective DNA Single-Strand Break Repair in Spinocerebellar Ataxia with Axonal Neuropathy-1. Nature 434 108-113.
-
(2005)
Nature
, vol.434
, pp. 108-113
-
-
El-Khamisy, S.F.1
Saifi, G.M.2
Weinfeld, M.3
-
172
-
-
13744253911
-
Deficiency in 3′-Phosphoglycolate Processing in Human Cells with a Hereditary Mutation in Tyrosyl-DNA Phosphodiesterase (TDP1)
-
T. Zhou, J.W. L, H. Tatavarthi, et al. (2005) Deficiency in 3′-Phosphoglycolate Processing in Human Cells with a Hereditary Mutation in Tyrosyl-DNA Phosphodiesterase (TDP1). Nucleic Acids Res. 33 289-297.
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 289-297
-
-
Zhou, T.1
Len, J.W.2
Tatavarthi, H.3
-
173
-
-
0034785531
-
The Gene Mutated in Ataxia-Ocular Apraxia 1 Encodes the New HIT/Zn-Finger Protein Aprataxin
-
M.C. Moreira, C. Barbot, N. Tachi, et al. (2001) The Gene Mutated in Ataxia-Ocular Apraxia 1 Encodes the New HIT/Zn-Finger Protein Aprataxin. Nat. Genet. 29 189-193.
-
(2001)
Nat. Genet.
, vol.29
, pp. 189-193
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
174
-
-
10744230604
-
Senataxin, the Ortholog of a Yeast RNA Helicase, is Mutant in Ataxia-Ocular Apraxia 2
-
M.C. Moreira, S. Klur, M. Watanabe, A.H. Nemeth, I. Le Ber, J.C. Moniz, C. Tranchant, P. Aubourg, M. Tazir, L. Schols, et al. (2004) Senataxin, the Ortholog of a Yeast RNA Helicase, is Mutant in Ataxia-Ocular Apraxia 2. Nat. Genet. 36(3), 225-227.
-
(2004)
Nat. Genet.
, vol.36
, Issue.3
, pp. 225-227
-
-
Moreira, M.C.1
Klur, S.2
Watanabe, M.3
Nemeth, A.H.4
Le Ber, I.5
Moniz, J.C.6
Tranchant, C.7
Aubourg, P.8
Tazir, M.9
Schols, L.10
-
175
-
-
0034790947
-
Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia Is Caused by Mutations in a New HIT Superfamily Gene
-
H. Date, O. Onodera, H. Tanaka, K. Iwabuchi, K. Uekawa, S. Igarashi, R. Koike, T. Hiroi, T. Yuasa, Y. Awaya, et al. (2001) Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia Is Caused by Mutations in a New HIT Superfamily Gene. Nat. Genet. 29(2), 184-188.
-
(2001)
Nat. Genet.
, vol.29
, Issue.2
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
Iwabuchi, K.4
Uekawa, K.5
Igarashi, S.6
Koike, R.7
Hiroi, T.8
Yuasa, T.9
Awaya, Y.10
-
176
-
-
33749821755
-
The Neurodegenerative Disease Protein Aprataxin Resolves Abortive DNA Ligation Intermediates
-
I. Ahel, U. Rass, S.F. El-Khamisy, S. Katyal, P.M. Clements, P.J. McKinnon, K.W. Caldecott and S.C. West (2006) The Neurodegenerative Disease Protein Aprataxin Resolves Abortive DNA Ligation Intermediates. Nature 443(7112), 713-716.
-
(2006)
Nature
, vol.443
, Issue.7112
, pp. 713-716
-
-
Ahel, I.1
Rass, U.2
El-Khamisy, S.F.3
Katyal, S.4
Clements, P.M.5
McKinnon, P.J.6
Caldecott, K.W.7
West, S.C.8
-
177
-
-
2442658908
-
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
-
Y.Z. Chen, C.L. Bennett, H.M. Huynh, I.P. Blair, I. Puls, J. Irobi, I. Dierick, A. Abel, M.L. Kennerson, B.A. Rabin, et al. (2004) DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4). Am. J. Hum. Genet. 74(6), 1128-1135.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
-
178
-
-
0036178210
-
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot–Marie–Tooth Disorder type 2) and Mouse
-
A. De Sandre-Giovannoli, M. Chaouch, S. Kozlov, et al. (2002) Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot–Marie–Tooth Disorder type 2) and Mouse. Am. J. Hum. Genet. 70 726-736.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
-
179
-
-
0032977685
-
Mutations in the Gene Encoding Lamin A/C Cause Autosomal Dominant Emery–Dreifuss Muscular Dystrophy
-
G. Bonne, M.R. Di Barletta, S. Varnous, et al. (1999) Mutations in the Gene Encoding Lamin A/C Cause Autosomal Dominant Emery–Dreifuss Muscular Dystrophy. Nat. Genet. 21 285-288.
-
(1999)
Nat. Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
-
180
-
-
0034702027
-
Identification of Mutations in the Gene Encoding Lamins A/C in Autosomal Dominant Limb Girdle Muscular Dystrophy with Atrioventricular Conduction Disturbances (LGMD1B)
-
A. Muchir, G. Bonne, A.J. van der Kooi, et al. (2000) Identification of Mutations in the Gene Encoding Lamins A/C in Autosomal Dominant Limb Girdle Muscular Dystrophy with Atrioventricular Conduction Disturbances (LGMD1B). Hum. Mol. Genet. 9 1453-1459.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
van der Kooi, A.J.3
-
181
-
-
0033518282
-
Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease
-
D. Fatkin, C. MacRae, T. Sasaki, et al. (1999) Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease. N. Engl. J. Med. 341 1715-1724.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
-
182
-
-
0034059075
-
Nuclear Lamin A/C R482Q Mutation in Canadian Kindreds with Dunnigan-Type Familial Partial Lipodystrophy
-
H. Cao and R.A. Hegele (2000) Nuclear Lamin A/C R482Q Mutation in Canadian Kindreds with Dunnigan-Type Familial Partial Lipodystrophy. Hum. Mol. Genet. 9 109-112.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
183
-
-
12244293441
-
Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C
-
G. Novelli, A. Muchir, F. Sangiuolo, et al. (2002) Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C. Am. J. Hum. Genet. 71 426-431.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
-
184
-
-
0031686054
-
Nuclear Lamins: Their Structure, Assembly, and Interactions
-
N. Stuurman, S. Heins and U. Aebi (1998) Nuclear Lamins: Their Structure, Assembly, and Interactions. J. Struct. Biol. 122 42-66.
-
(1998)
J. Struct. Biol.
, vol.122
, pp. 42-66
-
-
Stuurman, N.1
Heins, S.2
Aebi, U.3
-
185
-
-
0033615969
-
Loss of A-type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy
-
T. Sullivan, D. Escalante-Alcalde, H. Bhatt, et al. (1999) Loss of A-type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy. J. Cell. Biol. 147 913-920.
-
(1999)
J. Cell. Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
-
186
-
-
0036843702
-
The K-Cl Cotransporter KCC3 Is Mutant in a Severe Peripheral Neuropathy Associated with Agenesis of the Corpus Callosum
-
H.C. Howard, D.B. Mount, D. Rochefort, et al. (2002) The K-Cl Cotransporter KCC3 Is Mutant in a Severe Peripheral Neuropathy Associated with Agenesis of the Corpus Callosum. Nat. Genet. 32 384-392.
-
(2002)
Nat. Genet.
, vol.32
, pp. 384-392
-
-
Howard, H.C.1
Mount, D.B.2
Rochefort, D.3
-
187
-
-
33749853624
-
Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons
-
A. Antonellis, S.Q. Lee-Lin, A. Wasterlain, P. Leo, M. Quezado, L.G. Goldfarb, K. Myung, S. Burgess, K.H. Fischbeck and E.D. Green (2006) Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons. J. Neurosci. 26(41), 10397-10406.
-
(2006)
J. Neurosci.
, vol.26
, Issue.41
, pp. 10397-10406
-
-
Antonellis, A.1
Lee-Lin, S.Q.2
Wasterlain, A.3
Leo, P.4
Quezado, M.5
Goldfarb, L.G.6
Myung, K.7
Burgess, S.8
Fischbeck, K.H.9
Green, E.D.10
-
188
-
-
75749132024
-
GARS Axonopathy: Not Every Neuron’s Cup of tRNA
-
W.W. Motley, K. Talbot and K.H. Fischbeck (2010) GARS Axonopathy: Not Every Neuron’s Cup of tRNA. Trends Neurosci. 33(2), 59-66.
-
(2010)
Trends Neurosci.
, vol.33
, Issue.2
, pp. 59-66
-
-
Motley, W.W.1
Talbot, K.2
Fischbeck, K.H.3
-
189
-
-
78751702871
-
An Assessment of Mechanisms Underlying Peripheral Axonal Degeneration Caused by Aminoacyl-tRNA Synthetase Mutations
-
M. Stum, H.M. McLaughlin, E.L. Kleinbrink, K.E. Miers, S.L. Ackerman, K.L. Seburn, A. Antonellis and R.W. Burgess (2011) An Assessment of Mechanisms Underlying Peripheral Axonal Degeneration Caused by Aminoacyl-tRNA Synthetase Mutations. Mol. Cell. Neurosci. 46(2), 432-443.
-
(2011)
Mol. Cell. Neurosci.
, vol.46
, Issue.2
, pp. 432-443
-
-
Stum, M.1
McLaughlin, H.M.2
Kleinbrink, E.L.3
Miers, K.E.4
Ackerman, S.L.5
Seburn, K.L.6
Antonellis, A.7
Burgess, R.W.8
-
191
-
-
0038067742
-
Glycyl tRNA Synthetase Mutations in Charcot–Marie–Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
-
A. Antonellis, R.E. Ellsworth, N. Sambuughin, et al. (2003) Glycyl tRNA Synthetase Mutations in Charcot–Marie–Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. Am. J. Hum. Genet. 72 1293-1299.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
-
192
-
-
9144242516
-
Dominant Intermediate Charcot–Marie–Tooth Type C Maps to Chromosome 1p34-p35
-
A. Jordanova, F.P. Thomas, V. Guergueltcheva, I. Tournev, F.A. Gondim, B. Ishpekova, E. De Vriendt, A. Jacobs, I. Litvinenko, N. Ivanova, et al. (2003) Dominant Intermediate Charcot–Marie–Tooth Type C Maps to Chromosome 1p34-p35. Am. J. Hum. Genet. 73(6), 1423-1430.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, Issue.6
, pp. 1423-1430
-
-
Jordanova, A.1
Thomas, F.P.2
Guergueltcheva, V.3
Tournev, I.4
Gondim, F.A.5
Ishpekova, B.6
De Vriendt, E.7
Jacobs, A.8
Litvinenko, I.9
Ivanova, N.10
-
193
-
-
31744448271
-
Disrupted Function and Axonal Distribution of Mutant Tyrosyl-tRNA Synthetase in Dominant Intermediate Charcot–Marie–Tooth Neuropathy
-
A. Jordanova, J. Irobi, F.P. Thomas, P. Van Dijck, K. Meerschaert, M. Dewil, I. Dierick, A. Jacobs, E. De Vriendt, V. Guergueltcheva, et al. (2006) Disrupted Function and Axonal Distribution of Mutant Tyrosyl-tRNA Synthetase in Dominant Intermediate Charcot–Marie–Tooth Neuropathy. Nat. Genet. 38(2), 197-202.
-
(2006)
Nat. Genet.
, vol.38
, Issue.2
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
Van Dijck, P.4
Meerschaert, K.5
Dewil, M.6
Dierick, I.7
Jacobs, A.8
De Vriendt, E.9
Guergueltcheva, V.10
-
194
-
-
73349114324
-
A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot–Marie–Tooth Disease
-
P. Latour, C. Thauvin-Robinet, C. Baudelet-Mery, P. Soichot, V. Cusin, L. Faivre, M.C. Locatelli, M. Mayencon, A. Sarcey, E. Broussolle, et al. (2010) A Major Determinant for Binding and Aminoacylation of tRNA(Ala) in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot–Marie–Tooth Disease. Am. J. Hum. Genet. 86(1), 77-82.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, Issue.1
, pp. 77-82
-
-
Latour, P.1
Thauvin-Robinet, C.2
Baudelet-Mery, C.3
Soichot, P.4
Cusin, V.5
Faivre, L.6
Locatelli, M.C.7
Mayencon, M.8
Sarcey, A.9
Broussolle, E.10
-
195
-
-
77957724879
-
Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy
-
H.M. McLaughlin, R. Sakaguchi, C. Liu, T. Igarashi, D. Pehlivan, K. Chu, R. Iyer, P. Cruz, P.F. Cherukuri, N.F. Hansen, et al. (2010) Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy. Am. J. Hum. Genet. 87(4), 560-566.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, Issue.4
, pp. 560-566
-
-
McLaughlin, H.M.1
Sakaguchi, R.2
Liu, C.3
Igarashi, T.4
Pehlivan, D.5
Chu, K.6
Iyer, R.7
Cruz, P.8
Cherukuri, P.F.9
Hansen, N.F.10
-
196
-
-
20144366550
-
Mutations in the Pleckstrin Homology Domain of Dynamin 2 Cause Dominant Intermediate Charcot–Marie–Tooth Disease
-
S. Zuchner, M. Noureddine, M. Kennerson, et al. (2005) Mutations in the Pleckstrin Homology Domain of Dynamin 2 Cause Dominant Intermediate Charcot–Marie–Tooth Disease. Nat. Genet. 37 289-294.
-
(2005)
Nat. Genet.
, vol.37
, pp. 289-294
-
-
Zuchner, S.1
Noureddine, M.2
Kennerson, M.3
-
197
-
-
84855171766
-
INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
-
O. Boyer, F. Nevo, E. Plaisier, B. Funalot, O. Gribouval, G. Benoit, E.H. Cong, C. Arrondel, M.J. Tete, R. Montjean, et al. (2011) INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy. N. Engl. J. Med 365(25), 2377-2388.
-
(2011)
N. Engl. J. Med
, vol.365
, Issue.25
, pp. 2377-2388
-
-
Boyer, O.1
Nevo, F.2
Plaisier, E.3
Funalot, B.4
Gribouval, O.5
Benoit, G.6
Cong, E.H.7
Arrondel, C.8
Tete, M.J.9
Montjean, R.10
-
198
-
-
77955292066
-
Interruption of SOX10 Function in Myelinopathies
-
J.R. Lupski (2010) Interruption of SOX10 Function in Myelinopathies. Ann. Neurol. 68(2), 121-123.
-
(2010)
Ann. Neurol.
, vol.68
, Issue.2
, pp. 121-123
-
-
Lupski, J.R.1
-
199
-
-
0036157054
-
Charcot–Marie–Tooth Disease and Related Neuropathies: Mutation Distribution and Genotype-Phenotype Correlation
-
C.F. Boerkoel, H. Takashima, C.A. Garcia, et al. (2002) Charcot–Marie–Tooth Disease and Related Neuropathies: Mutation Distribution and Genotype-Phenotype Correlation. Ann. Neurol. 51 190-201.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
-
200
-
-
0030919434
-
Mutational Analysis of the MPZ, PMP22 and Cx32 Genes in Patients of Spanish Ancestry with Charcot–Marie–Tooth Disease and Hereditary Neuropathy with Liability to Pressure Palsies
-
S. Bort, E. Nelis, V. Timmerman, et al. (1997) Mutational Analysis of the MPZ, PMP22 and Cx32 Genes in Patients of Spanish Ancestry with Charcot–Marie–Tooth Disease and Hereditary Neuropathy with Liability to Pressure Palsies. Hum. Genet. 99 746-754.
-
(1997)
Hum. Genet.
, vol.99
, pp. 746-754
-
-
Bort, S.1
Nelis, E.2
Timmerman, V.3
-
201
-
-
6044277961
-
Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot–Marie–Tooth Neuropathy Patients
-
B.O. Choi, M.S. Lee, S.H. Shin, et al. (2004) Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot–Marie–Tooth Neuropathy Patients. Hum. Mutat. 24 185-186.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 185-186
-
-
Choi, B.O.1
Lee, M.S.2
Shin, S.H.3
-
202
-
-
0030896412
-
Connexin32 Gene Mutations in X-Linked Dominant Charcot–Marie–Tooth Disease (CMTX1)
-
E.A. Janssen, S. Kemp, G.W. Hensels, et al. (1997) Connexin32 Gene Mutations in X-Linked Dominant Charcot–Marie–Tooth Disease (CMTX1). Hum. Genet. 99 501-505.
-
(1997)
Hum. Genet.
, vol.99
, pp. 501-505
-
-
Janssen, E.A.1
Kemp, S.2
Hensels, G.W.3
-
203
-
-
0031988078
-
Autosomal Dominant Charcot–Marie–Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies: Detection of the Recombination in Slovene Patients and Exclusion of the Potentially Recessive Thr118Met PMP22 Point Mutation
-
L. Leonardis, J. Zidar, A. Ekici, et al. (1998) Autosomal Dominant Charcot–Marie–Tooth Disease Type 1A and Hereditary Neuropathy with Liability to Pressure Palsies: Detection of the Recombination in Slovene Patients and Exclusion of the Potentially Recessive Thr118Met PMP22 Point Mutation. Int. J. Mol. Med. 1 495-501.
-
(1998)
Int. J. Mol. Med.
, vol.1
, pp. 495-501
-
-
Leonardis, L.1
Zidar, J.2
Ekici, A.3
-
204
-
-
0034032649
-
Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot–Marie–Tooth Neuropathy Patients
-
I.V. Mersiyanova, S.M. Ismailov, A.V. Polyakov, et al. (2000) Screening for Mutations in the Peripheral Myelin Genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot–Marie–Tooth Neuropathy Patients. Hum. Mutat. 15 340-347.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 340-347
-
-
Mersiyanova, I.V.1
Ismailov, S.M.2
Polyakov, A.V.3
-
205
-
-
0034960303
-
Charcot–Marie–Tooth Disease Type I and Related Demyelinating Neuropathies: Mutation Analysis in a Large Cohort of Italian Families
-
M.L. Mostacciuolo, E. Righetti, M. Zortea, et al. (2001) Charcot–Marie–Tooth Disease Type I and Related Demyelinating Neuropathies: Mutation Analysis in a Large Cohort of Italian Families. Hum. Mutat. 18 32-41.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 32-41
-
-
Mostacciuolo, M.L.1
Righetti, E.2
Zortea, M.3
-
206
-
-
0033554348
-
Mutation Testing in Charcot-Marie–Tooth Neuropathy
-
G.A. Nicholson (1999) Mutation Testing in Charcot-Marie–Tooth Neuropathy. Ann. N. Y. Acad. Sci. 883 383-388.
-
(1999)
Ann. N. Y. Acad. Sci.
, vol.883
, pp. 383-388
-
-
Nicholson, G.A.1
-
207
-
-
0037398643
-
Vincristine-Induced Neuropathy as the Initial Presentation of Charcot–Marie–Tooth Disease in Acute Lymphoblastic Leukemia: A Pediatric Oncology Group study
-
A.R. Chauvenet, V. Shashi, C. Selsky, et al. (2003) Vincristine-Induced Neuropathy as the Initial Presentation of Charcot–Marie–Tooth Disease in Acute Lymphoblastic Leukemia: A Pediatric Oncology Group study. J. Pediatr. Hematol. Oncol. 25 316-320.
-
(2003)
J. Pediatr. Hematol. Oncol.
, vol.25
, pp. 316-320
-
-
Chauvenet, A.R.1
Shashi, V.2
Selsky, C.3
-
208
-
-
0030012140
-
Severe Vincristine Neuropathy in Charcot–Marie–Tooth Disease Type 1A
-
W.D. Graf, P.F. Chance, M.W. Lensch, et al. (1996) Severe Vincristine Neuropathy in Charcot–Marie–Tooth Disease Type 1A. Cancer 77 1356-1362.
-
(1996)
Cancer
, vol.77
, pp. 1356-1362
-
-
Graf, W.D.1
Chance, P.F.2
Lensch, M.W.3
-
209
-
-
79959316645
-
Whole-Genome Sequencing for Optimized Patient Management
-
M.N. Bainbridge, W. Wiszniewski, D.R. Murdock, J. Friedman, C. Gonzaga-Jauregui, I. Newsham, J.G. Reid, J.K. Fink, M.B. Morgan, M.C. Gingras, et al. (2011) Whole-Genome Sequencing for Optimized Patient Management. Sci. Transl. Med. 3(87), 87re3.
-
(2011)
Sci. Transl. Med.
, vol.3
, Issue.87
, pp. 87re3
-
-
Bainbridge, M.N.1
Wiszniewski, W.2
Murdock, D.R.3
Friedman, J.4
Gonzaga-Jauregui, C.5
Newsham, I.6
Reid, J.G.7
Fink, J.K.8
Morgan, M.B.9
Gingras, M.C.10
-
210
-
-
0025868571
-
DNA Duplication Associated with Charcot–Marie–Tooth Disease Type 1A
-
J.R. Lupski, R.M. de Oca-Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, B.J. Trask, O. Saucedo-Cardenas, D.F. Barker, J.M. Killian, C.A. Garcia, et al. (1991) DNA Duplication Associated with Charcot–Marie–Tooth Disease Type 1A. Cell 66(2), 219-232.
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
de Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
-
211
-
-
0026849499
-
Gene Dosage is a Mechanism for Charcot–Marie–Tooth Disease Type 1A
-
J.R. Lupski, C.A. Wise, A. Kuwano, L. Pentao, J.T. Parke, D.G. Glaze, D.H. Ledbetter, F. Greenberg and P.I. Patel (1992) Gene Dosage is a Mechanism for Charcot–Marie–Tooth Disease Type 1A. Nat. Genet. 1(1), 29-33.
-
(1992)
Nat. Genet.
, vol.1
, Issue.1
, pp. 29-33
-
-
Lupski, J.R.1
Wise, C.A.2
Kuwano, A.3
Pentao, L.4
Parke, J.T.5
Glaze, D.G.6
Ledbetter, D.H.7
Greenberg, F.8
Patel, P.I.9
-
212
-
-
77953232121
-
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
-
F. Zhang, P. Seeman, P. Liu, M.A. Weterman, C. Gonzaga-Jauregui, C.F. Towne, S.D. Batish, E. De Vriendt, P. De Jonghe, B. Rautenstrauss, et al. (2010) Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability. Am. J. Hum. Genet. 86(6), 892-903.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, Issue.6
, pp. 892-903
-
-
Zhang, F.1
Seeman, P.2
Liu, P.3
Weterman, M.A.4
Gonzaga-Jauregui, C.5
Towne, C.F.6
Batish, S.D.7
De Vriendt, E.8
De Jonghe, P.9
Rautenstrauss, B.10
-
213
-
-
78650041728
-
GJB1/Connexin 32 Whole Gene Deletions in Patients with X-Linked Charcot–Marie–Tooth Disease
-
C. Gonzaga-Jauregui, F. Zhang, C.F. Towne, S.D. Batish and J.R. Lupski (2010) GJB1/Connexin 32 Whole Gene Deletions in Patients with X-Linked Charcot–Marie–Tooth Disease. Neurogenetics 11(4), 465-470.
-
(2010)
Neurogenetics
, vol.11
, Issue.4
, pp. 465-470
-
-
Gonzaga-Jauregui, C.1
Zhang, F.2
Towne, C.F.3
Batish, S.D.4
Lupski, J.R.5
-
214
-
-
0032702596
-
Progressive Resistance Training in Neuromuscular Patients. Effects on Force and Surface EMG
-
E. Lindeman, F. Spaans, J. Reulen, et al. (1999) Progressive Resistance Training in Neuromuscular Patients. Effects on Force and Surface EMG. J. Electromyogr. Kinesiol. 9 379-384.
-
(1999)
J. Electromyogr. Kinesiol.
, vol.9
, pp. 379-384
-
-
Lindeman, E.1
Spaans, F.2
Reulen, J.3
-
216
-
-
0028222455
-
Management of Kineceptive Loss in CMT with an Elastic Ankle Support
-
I.M. Siegel (1994) Management of Kineceptive Loss in CMT with an Elastic Ankle Support. Muscle Nerve 17 827.
-
(1994)
Muscle Nerve
, vol.17
, pp. 827
-
-
Siegel, I.M.1
-
217
-
-
0034208309
-
The Pathogenesis and Surgical Management of Foot Deformity in Charcot–Marie–Tooth Disease
-
G.P. Guyton and R.A. Mann (2000) The Pathogenesis and Surgical Management of Foot Deformity in Charcot–Marie–Tooth Disease. Foot Ankle Clin. 5 317-326.
-
(2000)
Foot Ankle Clin.
, vol.5
, pp. 317-326
-
-
Guyton, G.P.1
Mann, R.A.2
-
218
-
-
0026512591
-
Triple Arthrodesis in the Treatment of Fixed Cavovarus Deformity in Adolescent Patients with Charcot–Marie–Tooth Disease
-
D.C. Mann and J.D. Hsu (1992) Triple Arthrodesis in the Treatment of Fixed Cavovarus Deformity in Adolescent Patients with Charcot–Marie–Tooth Disease. Foot Ankle 13 1-6.
-
(1992)
Foot Ankle
, vol.13
, pp. 1-6
-
-
Mann, D.C.1
Hsu, J.D.2
-
219
-
-
0037056091
-
Use of Anticonvulsants for Treatment of Neuropathic Pain
-
M.M. Backonja (2002) Use of Anticonvulsants for Treatment of Neuropathic Pain. Neurology 59 S14-S17.
-
(2002)
Neurology
, vol.59
, pp. S14-S17
-
-
Backonja, M.M.1
-
221
-
-
0035209065
-
Gabapentin for Neuropathic Pain: Systematic Review of Controlled and Uncontrolled Literature
-
M.A. Mellegers, A.D. Furlan and A. Mailis (2001) Gabapentin for Neuropathic Pain: Systematic Review of Controlled and Uncontrolled Literature. Clin. J. Pain 17 284-295.
-
(2001)
Clin. J. Pain
, vol.17
, pp. 284-295
-
-
Mellegers, M.A.1
Furlan, A.D.2
Mailis, A.3
-
222
-
-
0034643902
-
Pharmacologic Treatment of Essential Tremor
-
W.C. Koller, A. Hristova and M. Brin (2000) Pharmacologic Treatment of Essential Tremor. Neurology 54 S30-S38.
-
(2000)
Neurology
, vol.54
, pp. S30-S38
-
-
Koller, W.C.1
Hristova, A.2
Brin, M.3
-
223
-
-
0035907149
-
Delayed Functional Recovery by Vincristine After Sciatic Nerve Crush Injury: A Mouse Model of Vincristine Neurotoxicity
-
Y. Nakamura, H. Shimizu, C. Nishijima, et al. (2001) Delayed Functional Recovery by Vincristine After Sciatic Nerve Crush Injury: A Mouse Model of Vincristine Neurotoxicity. Neurosci. Lett. 304 5-8.
-
(2001)
Neurosci. Lett.
, vol.304
, pp. 5-8
-
-
Nakamura, Y.1
Shimizu, H.2
Nishijima, C.3
-
224
-
-
0035726549
-
Early Recognition of Hereditary Motor and Sensory Neuropathy Type 1 can Avoid Life-Threatening Vincristine Neurotoxicity
-
R. Naumann, J. Mohm, U. Reuner, et al. (2001) Early Recognition of Hereditary Motor and Sensory Neuropathy Type 1 can Avoid Life-Threatening Vincristine Neurotoxicity. Br. J. Haematol. 115 323-325.
-
(2001)
Br. J. Haematol.
, vol.115
, pp. 323-325
-
-
Naumann, R.1
Mohm, J.2
Reuner, U.3
-
225
-
-
0027518166
-
Nerve Conduction Studies in Charcot–Marie–Tooth Polyneuropathy Associated with a Segmental Duplication of Chromosome 17
-
D.A. Kaku, G.J. Parry, R. Malamut, et al. (1993) Nerve Conduction Studies in Charcot–Marie–Tooth Polyneuropathy Associated with a Segmental Duplication of Chromosome 17. Neurology 43 1806-1808.
-
(1993)
Neurology
, vol.43
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
-
226
-
-
0027753971
-
Uniform Slowing of Conduction Velocities in Charcot–Marie–Tooth Polyneuropathy Type 1
-
D.A. Kaku, G.J. Parry, R. Malamut, et al. (1993) Uniform Slowing of Conduction Velocities in Charcot–Marie–Tooth Polyneuropathy Type 1. Neurology 43 2664-2667.
-
(1993)
Neurology
, vol.43
, pp. 2664-2667
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
-
227
-
-
0033065199
-
Germline Mosaicism of MPZ Gene in Dejerine–Sottas Syndrome (HMSN III) Associated with Hereditary Stomatocytosis
-
H. Takashima, M. Nakagawa, A. Kanzaki, et al. (1999) Germline Mosaicism of MPZ Gene in Dejerine–Sottas Syndrome (HMSN III) Associated with Hereditary Stomatocytosis. Neuromuscul. Disord. 9 232-238.
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 232-238
-
-
Takashima, H.1
Nakagawa, M.2
Kanzaki, A.3
-
228
-
-
67649878596
-
The DNA Replication FoSTeS/MMBIR Mechanism Can Generate Genomic, Genic and Exonic Complex Rearrangements in Humans
-
F. Zhang, M. Khajavi, A.M. Connolly, C.F. Towne, S.D. Batish and J.R. Lupski (2009) The DNA Replication FoSTeS/MMBIR Mechanism Can Generate Genomic, Genic and Exonic Complex Rearrangements in Humans. Nat. Genet. 41(7), 849-853.
-
(2009)
Nat. Genet.
, vol.41
, Issue.7
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
229
-
-
79953286746
-
Exome Sequencing Allows for Rapid Gene Identification in a Charcot–Marie–Tooth Family
-
G. Montenegro, E. Powell, J. Huang, F. Speziani, Y.J. Edwards, G. Beecham, W. Hulme, C. Siskind, J. Vance, M. Shy, et al. (2011) Exome Sequencing Allows for Rapid Gene Identification in a Charcot–Marie–Tooth Family. Ann. Neurol. 69(3), 464-470.
-
(2011)
Ann. Neurol.
, vol.69
, Issue.3
, pp. 464-470
-
-
Montenegro, G.1
Powell, E.2
Huang, J.3
Speziani, F.4
Edwards, Y.J.5
Beecham, G.6
Hulme, W.7
Siskind, C.8
Vance, J.9
Shy, M.10
-
230
-
-
0026879614
-
The Gene for the Peripheral Myelin Protein PMP-22 Is a Candidate for Charcot–Marie–Tooth Disease Type 1A
-
P.I. Patel, B.B. Roa, A.A. Welcher, et al. (1992) The Gene for the Peripheral Myelin Protein PMP-22 Is a Candidate for Charcot–Marie–Tooth Disease Type 1A. Nat. Genet. 1 159-165.
-
(1992)
Nat. Genet.
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
|