-
1
-
-
1542562434
-
Charcot-Marie-Tooth disease type 2 predominating in the hands (CMT2d) and parkinsonism
-
Alfieri S, Melli G, Ferraris A, Marbini A, Bellone E, Mandich P, Cassandrini D, Gemignani F (2001). Charcot-Marie-Tooth disease type 2 predominating in the hands (CMT2d) and parkinsonism. Clin Neuropathol 20:113.
-
(2001)
Clin Neuropathol
, vol.20
, pp. 113
-
-
Alfieri, S.1
Melli, G.2
Ferraris, A.3
Marbini, A.4
Bellone, E.5
Mandich, P.6
Cassandrini, D.7
Gemignani, F.8
-
2
-
-
0041525496
-
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
-
Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O (2003). Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord 13:341-346.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 341-346
-
-
Azzedine, H.1
Ruberg, M.2
Ente, D.3
Gilardeau, C.4
Périé, S.5
Wechsler, B.6
Brice, A.7
LeGuern, E.8
Dubourg, O.9
-
3
-
-
0022971717
-
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family
-
Berciano J, Combarros O, Figols J, Calleja J, Cabello A, Silos I, Coria F (1986). Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain 109:897-914.
-
(1986)
Brain
, vol.109
, pp. 897-914
-
-
Berciano, J.1
Combarros, O.2
Figols, J.3
Calleja, J.4
Cabello, A.5
Silos, I.6
Coria, F.7
-
4
-
-
0030919339
-
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
-
Birouk N, Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, LeForestier N, Agid Y, Brice A, Bouche P (1997). Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120:813-823.
-
(1997)
Brain
, vol.120
, pp. 813-823
-
-
Birouk, N.1
Gouider, R.2
LeGuern, E.3
Gugenheim, M.4
Tardieu, S.5
Maisonobe, T.6
LeForestier, N.7
Agid, Y.8
Brice, A.9
Bouche, P.10
-
5
-
-
0031648807
-
Neuropathic pain in Charcot-Marie-Tooth disease
-
Carter GT, Jensen MP, Galer SG, Kraft GH, Crabtree LD, Beardsley RM, Abresch RT, Bird TD (1998). Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil 79:1560-1564.
-
(1998)
Arch Phys Med Rehabil
, vol.79
, pp. 1560-1564
-
-
Carter, G.T.1
Jensen, M.P.2
Galer, S.G.3
Kraft, G.H.4
Crabtree, L.D.5
Beardsley, R.M.6
Abresch, R.T.7
Bird, T.D.8
-
6
-
-
0037211466
-
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
-
Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D (2003). The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 13:60-67.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 60-67
-
-
Chaouch, M.1
Allal, Y.2
De Sandre-Giovannoli, A.3
Vallat, J.M.4
Amer-El-Khedoud, A.5
Kassouri, N.6
Chaouch, A.7
Sindou, P.8
Hammadouche, T.9
Tazir, M.10
Lévy, N.11
Grid, D.12
-
7
-
-
0028243770
-
Opioid responsiveness of cancer pain syndromes caused by neuropathic or nociceptive mechanisms: A combined analysis of controlled, single-dose studies
-
Cherny NI, Thaler HT, Friedlander-Klar H, Lapin J, Foley KM, Houde R, Portenoy RK (1994). Opioid responsiveness of cancer pain syndromes caused by neuropathic or nociceptive mechanisms: a combined analysis of controlled, single-dose studies. Neurology 44:857-861.
-
(1994)
Neurology
, vol.44
, pp. 857-861
-
-
Cherny, N.I.1
Thaler, H.T.2
Friedlander-Klar, H.3
Lapin, J.4
Foley, K.M.5
Houde, R.6
Portenoy, R.K.7
-
8
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
De Jonghe P, Mersiyanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (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
Mersiyanova, I.2
Nelis, E.3
Del Favero, J.4
Martin, J.J.5
Van Broeckhoven, C.6
Evgrafov, O.7
Timmerman, V.8
-
9
-
-
0030928374
-
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
-
De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C (1997a). Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 62: 570-573.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 570-573
-
-
De Jonghe, P.1
Timmerman, V.2
FitzPatrick, D.3
Spoelders, P.4
Martin, J.J.5
Van Broeckhoven, C.6
-
10
-
-
0031290336
-
Charcot-Marie-Tooth disease and related peripheral neuropathies
-
De Jonghe P, Timmermann V, Nelis E, Martin JJ, Van Broeckhoven C (1997b). Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 2:370-387.
-
(1997)
J Peripher Nerv Syst
, vol.2
, pp. 370-387
-
-
De Jonghe, P.1
Timmermann, V.2
Nelis, E.3
Martin, J.J.4
Van Broeckhoven, C.5
-
11
-
-
0032145786
-
2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands
-
De Jonghe P, Timmermann V, van Broeckhoven C (1998). 2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands. Neuromuscul Disord 8:426-431.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 426-431
-
-
De Jonghe, P.1
Timmermann, V.2
Van Broeckhoven, C.3
-
12
-
-
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, Vallat JM, Tazir M, Kassouri N, szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N (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
Vallat, J.M.4
Tazir, M.5
Kassouri, N.6
Szepetowski, P.7
Hammadouche, T.8
Vandenberghe, A.9
Stewart, C.L.10
Grid, D.11
Lévy, N.12
-
13
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck, PJ, Thomas, PK, Griffin, JW, Low, PA, Poduslo, JF Eds. W.B. Saunders, Philadelphia
-
Dyck PJ, Chance P, Lebo R, Carney JA (1993). Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy, 3rd Edn. Dyck, PJ, Thomas, PK, Griffin, JW, Low, PA, Poduslo, JF Eds. W.B. Saunders, Philadelphia, pp. 1094-1136.
-
(1993)
Peripheral Neuropathy, 3rd Edn.
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
14
-
-
0019494495
-
Intensive evaluation of referred unclassified neuropathies yields improved diagnosis
-
Dyck PJ, Oviatt KF, Lambert EH (1981). Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 10:222-226.
-
(1981)
Ann Neurol
, vol.10
, pp. 222-226
-
-
Dyck, P.J.1
Oviatt, K.F.2
Lambert, E.H.3
-
15
-
-
0031033936
-
Hereditary motor and sensory neuropathy IIB: Clinical and electro-diagnostic characteristics
-
Elliott JL, Kwon JM, Goodfellow PJ, Yee WC (1997). Hereditary motor and sensory neuropathy IIB: clinical and electro-diagnostic characteristics. Neurology 48:23-28.
-
(1997)
Neurology
, vol.48
, pp. 23-28
-
-
Elliott, J.L.1
Kwon, J.M.2
Goodfellow, P.J.3
Yee, W.C.4
-
16
-
-
0032958877
-
Analysis of sensory function in Charcot-Marie-Tooth disease
-
Ericson U, Borg K (1999). Analysis of sensory function in Charcot-Marie-Tooth disease. Acta Neurol Scand 99:291-296.
-
(1999)
Acta Neurol Scand
, vol.99
, pp. 291-296
-
-
Ericson, U.1
Borg, K.2
-
17
-
-
1542562437
-
Multifactorial neuropathy
-
Gemignani F, Ferraris A, Grosso R, Alfieri S, Melli G, Marbini A (2001). Multifactorial neuropathy. J Peripher Nerv Syst 6:50.
-
(2001)
J Peripher Nerv Syst
, vol.6
, pp. 50
-
-
Gemignani, F.1
Ferraris, A.2
Grosso, R.3
Alfieri, S.4
Melli, G.5
Marbini, A.6
-
18
-
-
0026564532
-
Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature
-
Gemignani F, Guidetti D, Bizzi P, Preda P, Cenacchi G, Marbini A (1992). Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol 83:196-201.
-
(1992)
Acta Neuropathol
, vol.83
, pp. 196-201
-
-
Gemignani, F.1
Guidetti, D.2
Bizzi, P.3
Preda, P.4
Cenacchi, G.5
Marbini, A.6
-
19
-
-
0035865035
-
Charcot-Marie-Tooth disease (CMT): Distinctive phenotypic and genotypic features in CMT type 2
-
Gemignani F, Marbini A (2001). Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2. J Neurol Sci 184:1-9.
-
(2001)
J Neurol Sci
, vol.184
, pp. 1-9
-
-
Gemignani, F.1
Marbini, A.2
-
20
-
-
0033596802
-
Charcot-Marie-Tooth disease type 2 with restless legs syndrome
-
Gemignani F, Marbini A, Di Giovanni G, Salih S, Terzano MG (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
Salih, S.4
Terzano, M.G.5
-
21
-
-
0036819173
-
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
-
Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K (2002). A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4:93-96.
-
(2002)
Neurogenetics
, vol.4
, pp. 93-96
-
-
Georgiou, D.M.1
Zidar, J.2
Korosec, M.3
Middleton, L.T.4
Kyriakides, T.5
Christodoulou, K.6
-
22
-
-
0027270107
-
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN
-
Hahn AF (1993). Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 3:147-155.
-
(1993)
Brain Pathol
, vol.3
, pp. 147-155
-
-
Hahn, A.F.1
-
23
-
-
0032477311
-
3rd workshop of the European CMT Consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands
-
Haites NE, Nelis E, van Broeckhoven C (1998). 3rd workshop of the European CMT Consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. Neuromuscul Disord 8:591-603.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 591-603
-
-
Haites, N.E.1
Nelis, E.2
Van Broeckhoven, C.3
-
24
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding AE, Thomas PK (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
-
25
-
-
0022523784
-
Classification of chronic pain. Descriptions of chronic pain syndromes and definition of pains terms
-
International Association for the Study of Pain Subcommittee on Taxonomy (1986). Classification of chronic pain. Descriptions of chronic pain syndromes and definition of pains terms. Pain 3:S1-S226.
-
(1986)
Pain
, vol.3
-
-
-
26
-
-
0028847995
-
Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
-
Ionasescu VV (1995). Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 18:267-275.
-
(1995)
Muscle Nerve
, vol.18
, pp. 267-275
-
-
Ionasescu, V.V.1
-
27
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (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
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
Martin, J.J.7
Butler, I.J.8
Mancias, P.9
Papasozomenos, S.Ch.10
Terespolsky, D.11
Potocki, L.12
Brown, C.W.13
Shy, M.14
Rita, D.A.15
Tournev, I.16
Kremensky, I.17
Lupski, J.R.18
Timmerman, V.19
-
28
-
-
0033963592
-
Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy
-
Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME (2000). Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain 222-233.
-
(2000)
Brain
, pp. 222-233
-
-
Kamholz, J.1
Menichella, D.2
Jani, A.3
Garbern, J.4
Lewis, R.A.5
Krajewski, K.M.6
Lilien, J.7
Scherer, S.S.8
Shy, M.E.9
-
29
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME (2000). Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 123:1516-1527.
-
(2000)
Brain
, vol.123
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
Kamholz, J.7
Shy, M.E.8
-
30
-
-
0037005365
-
Clinical features and molecular genetics of hereditary peripheral neuropathies
-
Kuhlenbäumer G, Young P, Hünermund G, Ringelstein B, Stögbauer F (2002). Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 249: 1629-1650.
-
(2002)
J Neurol
, vol.249
, pp. 1629-1650
-
-
Kuhlenbäumer, G.1
Young, P.2
Hünermund, G.3
Ringelstein, B.4
Stögbauer, F.5
-
31
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (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
Sitnikov, V.F.4
Dadali, E.L.5
Oparin, R.B.6
Petrin, A.N.7
Evgrafov, O.V.8
-
32
-
-
0037168759
-
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
-
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V (2002). Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59: 1865-1872.
-
(2002)
Neurology
, vol.59
, 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
Verellen, C.11
Tan, E.12
Demirci, M.13
Van Broeckhoven, C.14
De Jonghe, P.15
Topaloglu, H.16
Timmerman, V.17
-
33
-
-
0028609807
-
Chronic idiopathic axonal polyneuropathy: A five year follow up
-
Notermans NC, Wokke JH, van der Graaf Y, Franssen H, van Dijk GW, Jennekens FG (1994). Chronic idiopathic axonal polyneuropathy: a five year follow up. J Neurol Neurosurg Psychiatry 57:1525-1527.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 1525-1527
-
-
Notermans, N.C.1
Wokke, J.H.2
Van Der Graaf, Y.3
Franssen, H.4
Van Dijk, G.W.5
Jennekens, F.G.6
-
34
-
-
0019121328
-
Paraesthesiae from ectopic impulse generation in human sensory nerves
-
Ochoa JL, Torebjörk HE (1980). Paraesthesiae from ectopic impulse generation in human sensory nerves. Brain 103: 835-854.
-
(1980)
Brain
, vol.103
, pp. 835-854
-
-
Ochoa, J.L.1
Torebjörk, H.E.2
-
36
-
-
0032948050
-
Effects of PMP22 duplication and deletions on the axonal cytoskeleton
-
Sahenk Z, Chen L, Mendell JR (1999). Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 45:16-24.
-
(1999)
Ann Neurol
, vol.45
, pp. 16-24
-
-
Sahenk, Z.1
Chen, L.2
Mendell, J.R.3
-
37
-
-
0024586435
-
X-linked recessive bulbospinal neuronopathy. A clinicopathological study
-
Sobue G, Hashizume Y, Mukai E, Hirayama M, Mitsuma T, Takahashi A (1989). X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 112:209-232.
-
(1989)
Brain
, vol.112
, pp. 209-232
-
-
Sobue, G.1
Hashizume, Y.2
Mukai, E.3
Hirayama, M.4
Mitsuma, T.5
Takahashi, A.6
-
38
-
-
0030977085
-
Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study
-
Teunissen LL, Notermans NC, Franssen H, van der Graaf Y, Oey PL, Linssen WH, van Engelen BG, Ippel PF, van Dijk GW, Gabreëls-Festen AA, Wokke JH (1997). Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study. Brain 120:955-962.
-
(1997)
Brain
, vol.120
, pp. 955-962
-
-
Teunissen, L.L.1
Notermans, N.C.2
Franssen, H.3
Van Der Graaf, Y.4
Oey, P.L.5
Linssen, W.H.6
Van Engelen, B.G.7
Ippel, P.F.8
Van Dijk, G.W.9
Gabreëls-Festen, A.A.10
Wokke, J.H.11
-
39
-
-
0037782429
-
Disease course of Charcot-Marie-Tooth disease type 2: A 5-year follow-up study
-
Teunissen LL, Notermans NC, Franssen H, van Engelen BG, Baas F, Wokke JH (2003). Disease course of Charcot-Marie-Tooth disease type 2: a 5-year follow-up study. Arch Neurol 60:823-828.
-
(2003)
Arch Neurol
, vol.60
, pp. 823-828
-
-
Teunissen, L.L.1
Notermans, N.C.2
Franssen, H.3
Van Engelen, B.G.4
Baas, F.5
Wokke, J.H.6
-
40
-
-
0030035987
-
Distal hereditary motor neuropathy type II (distal HMN II): Mapping of a locus to chromosome 12q24
-
Timmerman V, De Jonghe P, Simokovic S, Lofgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, van Broeckhoven C (1996). Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum Mol Genet 5:1065-1069.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1065-1069
-
-
Timmerman, V.1
De Jonghe, P.2
Simokovic, S.3
Lofgren, A.4
Beuten, J.5
Nelis, E.6
Ceuterick, C.7
Martin, J.J.8
Van Broeckhoven, C.9
-
41
-
-
0023889706
-
Interobserver agreement for the assessment of handicap in stroke patients
-
van Swieten JC, Koudstaal PJ, Visser MC, Schouten HJ, van Gijn J (1988). Interobserver agreement for the assessment of handicap in stroke patients. Stroke 19:604-607.
-
(1988)
Stroke
, vol.19
, pp. 604-607
-
-
Van Swieten, J.C.1
Koudstaal, P.J.2
Visser, M.C.3
Schouten, H.J.4
Van Gijn, J.5
-
42
-
-
0037371509
-
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
-
Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V (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
Verpoorten, N.4
Auer-Grumbach, M.5
Kwon, J.M.6
FitzPatrick, D.7
Schmedding, E.8
De Vriendt, E.9
Jacobs, A.10
Van Gerwen, V.11
Wagner, K.12
Hartung, H.P.13
Timmerman, V.14
-
43
-
-
0037465465
-
CMT with pyramidal features
-
Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA (2003). CMT with pyramidal features. Neurology 60:696-699.
-
(2003)
Neurology
, vol.60
, pp. 696-699
-
-
Vucic, S.1
Kennerson, M.2
Zhu, D.3
Miedema, E.4
Kok, C.5
Nicholson, G.A.6
-
44
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta
-
Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (2001). Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. Cell 105:587-597.
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
Yang, H.W.7
Terada, S.8
Nakata, T.9
Takei, Y.10
Saito, M.11
Tsuji, S.12
Hayashi, Y.13
Hirokawa, N.14
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