-
1
-
-
0002896804
-
Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains
-
Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Neurol 1886;6:97-138
-
(1886)
Rev Neurol
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
3
-
-
77957213144
-
Extreme slowing of nerve conduction in peroneal muscular atrophy
-
Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957;15:104-7
-
(1957)
Ann Phys Med
, vol.15
, pp. 104-107
-
-
Gilliatt, R.W.1
Thomas, P.K.2
-
4
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
5
-
-
0014301112
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations. Arch Neurol 1968;18:619-25
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyck, P.J.1
Lambert, E.H.2
-
6
-
-
0018817642
-
Autosomal recessive forms of hereditary motor and sensory neuropathy
-
Harding AE, Thomas PK. Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1980;43:667-78
-
(1980)
J Neurol Neurosurg Psychiatry
, vol.43
, pp. 667-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
7
-
-
0019519135
-
Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood
-
Ouvrier RA, McLeod JG, Morgan GJ, Wise GA, Conchin TE. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neurol Sci 1981;51:181-97
-
(1981)
J Neurol Sci
, vol.51
, pp. 181-197
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Morgan, G.J.3
Wise, G.A.4
Conchin, T.E.5
-
8
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993;2:1625-8
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1625-1628
-
-
Ben Othmane, K.1
Hentati, F.2
Lennon, F.3
-
9
-
-
0038504662
-
Dominantly inherited peripheral neuropathies
-
Vallat JM. Dominantly inherited peripheral neuropathies. J Neuropathol Exp Neurol 2003;62:699-714
-
(2003)
J Neuropathol Exp Neurol
, vol.62
, pp. 699-714
-
-
Vallat, J.M.1
-
10
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002;30:21-22
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
11
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-25
-
(2002)
Nat Genet
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
-
12
-
-
0345316694
-
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in GDAP1 gene
-
Birouk N, Azzedine H, Dubourg O, et al. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in GDAP1 gene. Arch Neurol 2003;60:598-604
-
(2003)
Arch Neurol
, vol.60
, pp. 598-604
-
-
Birouk, N.1
Azzedine, H.2
Dubourg, O.3
-
13
-
-
0042207076
-
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies due to GDAP1 nonsense and splicing mutations
-
De Sandre-Giovannoli A, Chaouch M, Boccaccio I, et al. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies due to GDAP1 nonsense and splicing mutations. J Med Genet 2003;40:e87
-
(2003)
J Med Genet
, vol.40
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Boccaccio, I.3
-
14
-
-
0242522455
-
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
-
Senderek J, Bergmann C, Stendel C, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 2003;73:1106-19
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1106-1119
-
-
Senderek, J.1
Bergmann, C.2
Stendel, C.3
-
15
-
-
0037371253
-
CMT4A: Identification of a Hispanic GDAP1 founder mutation
-
Boerkoel CF, Takashima H, Nakagawa M, et al. CMT4A: Identification of a Hispanic GDAP1 founder mutation. Ann Neurol 2003;53:400-405
-
(2003)
Ann Neurol
, vol.53
, pp. 400-405
-
-
Boerkoel, C.F.1
Takashima, H.2
Nakagawa, M.3
-
16
-
-
0023194132
-
Congenital hypo- and hypermyelination neuropathy. Two cases
-
Vallat JM, Gil R, Leboutet MJ, Hugon J, Mouliès D. Congenital hypo- and hypermyelination neuropathy. Two cases. Acta Neuropathol 1987;74: 197-201
-
(1987)
Acta Neuropathol
, vol.74
, pp. 197-201
-
-
Vallat, J.M.1
Gil, R.2
Leboutet, M.J.3
Hugon, J.4
Mouliès, D.5
-
17
-
-
0024322088
-
Autosomal recessive motor and sensory neuropathy with excessive myelin outfoldings
-
Ohnishi A, Murai Y, Ikeda M, Fujita T, Furuya H, Kuroiwa Y. Autosomal recessive motor and sensory neuropathy with excessive myelin outfoldings. Muscle Nerve 1989;12:568-75
-
(1989)
Muscle Nerve
, vol.12
, pp. 568-575
-
-
Ohnishi, A.1
Murai, Y.2
Ikeda, M.3
Fujita, T.4
Furuya, H.5
Kuroiwa, Y.6
-
19
-
-
0026692762
-
An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome
-
Jacobs JM, Wilson J. An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. Acta Neuropathol 1992;83:670-74
-
(1992)
Acta Neuropathol
, vol.83
, pp. 670-674
-
-
Jacobs, J.M.1
Wilson, J.2
-
20
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000;25:17-19
-
(2000)
Nat Genet
, vol.25
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
-
21
-
-
0041808715
-
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
-
Previtali SC, Zerega B, Sherman DL, et al. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet 2003;12:1713-23
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1713-1723
-
-
Previtali, S.C.1
Zerega, B.2
Sherman, D.L.3
-
22
-
-
0034743936
-
Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
-
Houlden H, King RH, Wood NW, Thomas PK, Reilly MM. Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 2001;124:907-15
-
(2001)
Brain
, vol.124
, pp. 907-915
-
-
Houlden, H.1
King, R.H.2
Wood, N.W.3
Thomas, P.K.4
Reilly, M.M.5
-
23
-
-
17344376225
-
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15
-
Ben Othmane K, Johnson E, Menold M, et al. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics 1999;62:344-49
-
(1999)
Genomics
, vol.62
, pp. 344-349
-
-
Ben Othmane, K.1
Johnson, E.2
Menold, M.3
-
24
-
-
3543095095
-
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
-
Hirano R, Takashima H, Umehara F, et al. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology 2004;63:577-80
-
(2004)
Neurology
, vol.63
, pp. 577-580
-
-
Hirano, R.1
Takashima, H.2
Umehara, F.3
-
25
-
-
0033924377
-
Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero
-
Fabrizi GM, Taioli F, Cavallaro T, et al. Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. Acta Neuropathol 2000;100:299-304
-
(2000)
Acta Neuropathol
, vol.100
, pp. 299-304
-
-
Fabrizi, G.M.1
Taioli, F.2
Cavallaro, T.3
-
26
-
-
0030900182
-
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
-
Kessali M, Zemmouri R, Guilbot A, et al. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology 1997;48:867-73
-
(1997)
Neurology
, vol.48
, pp. 867-873
-
-
Kessali, M.1
Zemmouri, R.2
Guilbot, A.3
-
27
-
-
0032940401
-
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
-
Gabreëls-Festen A, Van Beersum S, Eshuis L, et al. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 1999;66: 569-74
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 569-574
-
-
Gabreëls-Festen, A.1
Van Beersum, S.2
Eshuis, L.3
-
28
-
-
0036837235
-
Genetic heterogeneity in giant axonal neuropathy: An Algerian family not linked to chromosome 16q24.1
-
Tazir M, Vallat JM, Bomont P, et al. Genetic heterogeneity in giant axonal neuropathy: An Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord 2002;12:849-52
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 849-852
-
-
Tazir, M.1
Vallat, J.M.2
Bomont, P.3
-
29
-
-
1942473714
-
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
-
Fabrizi GM, Cavallaro T, Angiari C, et al. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 2004;62:1429-31
-
(2004)
Neurology
, vol.62
, pp. 1429-1431
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
-
30
-
-
0033792597
-
Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
-
Zemmouri R, Azzedine H, Assami S, et al. Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. Neuromuscular Disord 2000;10:592-98
-
(2000)
Neuromuscular Disord
, vol.10
, pp. 592-598
-
-
Zemmouri, R.1
Azzedine, H.2
Assami, S.3
-
31
-
-
10744225184
-
Charcot-Marie-Tooth disease with giant axons: A clinicopathologic and genetic entity
-
Lus G, Nelis E, Jordanova A, et al. Charcot-Marie-Tooth disease with giant axons: A clinicopathologic and genetic entity. Neurology 2003;61:988-90
-
(2003)
Neurology
, vol.61
, pp. 988-990
-
-
Lus, G.1
Nelis, E.2
Jordanova, A.3
-
32
-
-
0031882018
-
Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings
-
Kalaydjieva L, Nikolova A, Turnev I, et al. Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 1998;121:399-408
-
(1998)
Brain
, vol.121
, pp. 399-408
-
-
Kalaydjieva, L.1
Nikolova, A.2
Turnev, I.3
-
33
-
-
0032055758
-
HMSNL in a 13-year-old Bulgarian girl
-
Baethmann M, Göhlich-Ratmann G, Schröder JM, Kalaydjieva L, Voit T. HMSNL in a 13-year-old Bulgarian girl. Neuromuscular Disord 1998; 8:90-94
-
(1998)
Neuromuscular Disord
, vol.8
, pp. 90-94
-
-
Baethmann, M.1
Göhlich-Ratmann, G.2
Schröder, J.M.3
Kalaydjieva, L.4
Voit, T.5
-
34
-
-
0032078756
-
Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family
-
Merlini L, Villanova M, Sabatelli P, et al. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family. Neuromuscular Disord 1998;8:182-85
-
(1998)
Neuromuscular Disord
, vol.8
, pp. 182-185
-
-
Merlini, L.1
Villanova, M.2
Sabatelli, P.3
-
35
-
-
0033005095
-
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
-
Butinar D, Zidar J, Leonardis L, et al. Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred. Ann Neurol 1999;46:36-44
-
(1999)
Ann Neurol
, vol.46
, pp. 36-44
-
-
Butinar, D.1
Zidar, J.2
Leonardis, L.3
-
36
-
-
0007667246
-
Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom
-
King RH, Tournev I, Colomer J, et al. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathol Appl Neurobiol 1999;25:306-12
-
(1999)
Neuropathol Appl Neurobiol
, vol.25
, pp. 306-312
-
-
King, R.H.1
Tournev, I.2
Colomer, J.3
-
37
-
-
0033784885
-
Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: Clinical, electrophysiological, pathologic and genetic studies
-
Colomer J, Iturriaga C, Kalydjieva L, et al. Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: Clinical, electrophysiological, pathologic and genetic studies. Neuromuscul Disord 2000;10:573-83
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 573-583
-
-
Colomer, J.1
Iturriaga, C.2
Kalydjieva, L.3
-
38
-
-
5144232019
-
Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom
-
Berger P, Sirkowski EE, Scherer SS, Suter U. Expression analysis of the N-Myc downstream-regulated gene 1 indicates that myelinating Schwann cells are the primary disease target in hereditary motor and sensory neuropathy-Lom. Neurobiol Dis 2004;17:290-99
-
(2004)
Neurobiol Dis
, vol.17
, pp. 290-299
-
-
Berger, P.1
Sirkowski, E.E.2
Scherer, S.S.3
Suter, U.4
-
39
-
-
0032797721
-
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
-
Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Gen 1999;8:1245-51
-
(1999)
Hum Mol Gen
, vol.8
, pp. 1245-1251
-
-
Warner, L.E.1
Svaren, J.2
Milbrandt, J.3
Lupski, J.R.4
-
40
-
-
0027489565
-
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
-
Roa BB, Garcia CA, Pentao L, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 1993;5: 189-94
-
(1993)
Nat Genet
, vol.5
, pp. 189-194
-
-
Roa, B.B.1
Garcia, C.A.2
Pentao, L.3
-
41
-
-
0030641519
-
PMP22 Thr(118)Met: Recessive CMT1 mutation or polymorphism?
-
Nelis E, Holmberg B, Adolfsson R, Holmgren G, Van Broeckhove C. PMP22 Thr(118)Met: Recessive CMT1 mutation or polymorphism? Nat Genet 1997;15:13-I4
-
(1997)
Nat Genet
, vol.15
-
-
Nelis, E.1
Holmberg, B.2
Adolfsson, R.3
Holmgren, G.4
Van Broeckhove, C.5
-
42
-
-
0032894049
-
Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
-
Naef R, Suter U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 1999;6:1-14
-
(1999)
Neurobiol Dis
, vol.6
, pp. 1-14
-
-
Naef, R.1
Suter, U.2
-
43
-
-
0033962528
-
Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1
-
Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. Ann Neurol 2000;47:101-3
-
(2000)
Ann Neurol
, vol.47
, pp. 101-103
-
-
Numakura, C.1
Lin, C.2
Oka, N.3
Akiguchi, I.4
Hayasaka, K.5
-
44
-
-
0345389974
-
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease
-
Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, et al. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Ann Neurol 1999;45:518-22
-
(1999)
Ann Neurol
, vol.45
, pp. 518-522
-
-
Parman, Y.1
Planté-Bordeneuve, V.2
Guiochon-Mantel, A.3
-
45
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
Boerkoel CF, Takashima H, Stankiewicz P, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 2001;68:325-33
-
(2001)
Am J Hum Genet
, vol.68
, pp. 325-333
-
-
Boerkoel, C.F.1
Takashima, H.2
Stankiewicz, P.3
-
46
-
-
0035864930
-
A mutation in periaxin is responsible for CMT 4F, an autosomal recessive form of Charcot-Marie-Tooth disease
-
Guilbot A, Williams A, Ravise N, et al. A mutation in periaxin is responsible for CMT 4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 2001;15:415-21
-
(2001)
Hum Mol Genet
, vol.15
, pp. 415-421
-
-
Guilbot, A.1
Williams, A.2
Ravise, N.3
-
47
-
-
0029615322
-
Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development
-
Scherer SS, Xu YT, Bannerman PG, Shennan DL, Brophy PJ. Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development. Development 1995;121:4265-73
-
(1995)
Development
, vol.121
, pp. 4265-4273
-
-
Scherer, S.S.1
Xu, Y.T.2
Bannerman, P.G.3
Shennan, D.L.4
Brophy, P.J.5
-
48
-
-
0036267227
-
Periaxin mutations cause a broad spectrum of demyelinating neuropathies
-
Takashima H, Boerkoel CF, De Jonghe P, et al. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 2002;51: 709-15
-
(2002)
Ann Neurol
, vol.51
, pp. 709-715
-
-
Takashima, H.1
Boerkoel, C.F.2
De Jonghe, P.3
-
49
-
-
0141887412
-
Refined mapping of the HMSNR critical gene region - Construction of a high-density integrated genetic and physical map
-
Hantke J, Rogers T, French L, et al. Refined mapping of the HMSNR critical gene region - construction of a high-density integrated genetic and physical map. Neuromuscular Disord 2003;13:729-36
-
(2003)
Neuromuscular Disord
, vol.13
, pp. 729-736
-
-
Hantke, J.1
Rogers, T.2
French, L.3
-
50
-
-
0034790977
-
Hereditary motor and sensory neuropathy-Russe: New autosomal recessive neuropathy in Balkan Gypsies
-
Thomas PK, Kalaydjieva L, Youl B, et al. Hereditary motor and sensory neuropathy-Russe: New autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 2001;50:452-57
-
(2001)
Ann Neurol
, vol.50
, pp. 452-457
-
-
Thomas, P.K.1
Kalaydjieva, L.2
Youl, B.3
-
51
-
-
0010669659
-
A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3
-
Bouhouche A, Benomar A, Birouk N, et al. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet 1999;65:722-27
-
(1999)
Am J Hum Genet
, vol.65
, pp. 722-727
-
-
Bouhouche, A.1
Benomar, A.2
Birouk, N.3
-
52
-
-
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
-
De Sandre-Giovannoli A, Chaouch M, Kozlov S, et al. 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 2002;70:726-36
-
(2002)
Am J Hum Genet
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
-
53
-
-
11144356604
-
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3
-
Berghoff C, Berghoff M, Leal A, et al. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscul Disord 2004;14:301-6
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 301-306
-
-
Berghoff, C.1
Berghoff, M.2
Leal, A.3
-
54
-
-
0025868094
-
Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood
-
Gabreëls-Festen AA, Joosten EM, Gabreëls FJ, et al. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. Brain 1991;114:1855-70
-
(1991)
Brain
, vol.114
, pp. 1855-1870
-
-
Gabreëls-Festen, A.A.1
Joosten, E.M.2
Gabreëls, F.J.3
-
55
-
-
0035144845
-
Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3
-
Barhoumi C, Amouri R, Ben Hamida C, et al. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 2001;11:27-34
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 27-34
-
-
Barhoumi, C.1
Amouri, R.2
Ben Hamida, C.3
-
56
-
-
9144247168
-
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C
-
Tazir M, Azzedine H, Assami S, et al. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain 2003;127:154-63
-
(2003)
Brain
, vol.127
, pp. 154-163
-
-
Tazir, M.1
Azzedine, H.2
Assami, S.3
-
57
-
-
2942608209
-
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
-
Goizet C, Yaou RB, Demay L, et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet 2004;41:e29
-
(2004)
J Med Genet
, vol.41
-
-
Goizet, C.1
Yaou, R.B.2
Demay, L.3
-
58
-
-
0035010811
-
Severe infantile axonal neuropathy with respiratory failure
-
Wilmshurst JM, Bye A, Rittey C, et al. Severe infantile axonal neuropathy with respiratory failure. Muscle Nerve 2001;24:760-68
-
(2001)
Muscle Nerve
, vol.24
, pp. 760-768
-
-
Wilmshurst, J.M.1
Bye, A.2
Rittey, C.3
-
59
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin mu binding protein 2 cause spinal muscular atrophy with respiratory distress type I
-
Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin mu binding protein 2 cause spinal muscular atrophy with respiratory distress type I. Nat Genet 2001;29:75-77
-
(2001)
Nat Genet
, vol.29
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
-
60
-
-
0345306176
-
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1
-
Pitt M, Houlden H, Jacobs J, et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003;126: 2682-92
-
(2003)
Brain
, vol.126
, pp. 2682-2692
-
-
Pitt, M.1
Houlden, H.2
Jacobs, J.3
|