-
1
-
-
76249134523
-
-
Lovelace RE. Charcot-Marie-Tooth disorders and other hereditary neuropathies. In: Younger DS, ed. Motor Disorders. Philadelphia, PA: Lippincott, Williams & Wilkins; 1999:203-211.
-
Lovelace RE. Charcot-Marie-Tooth disorders and other hereditary neuropathies. In: Younger DS, ed. Motor Disorders. Philadelphia, PA: Lippincott, Williams & Wilkins; 1999:203-211.
-
-
-
-
2
-
-
34147204967
-
Sorting out the inherited neuropathies
-
Reilly MM. Sorting out the inherited neuropathies. Pract Neurol 2007;7:93-105.
-
(2007)
Pract Neurol
, vol.7
, pp. 93-105
-
-
Reilly, M.M.1
-
3
-
-
0033782833
-
Classification of the hereditary motor and sensory neuropathies
-
Reilly MM. Classification of the hereditary motor and sensory neuropathies. Curr Opin Neurol 2000;13:561-564.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 561-564
-
-
Reilly, M.M.1
-
4
-
-
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
-
6
-
-
0002896804
-
Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambs 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 jambs et atteignant plus tard les mains. Rev Med 1886;6;97-138.
-
(1886)
Rev Med
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
7
-
-
76249127892
-
-
Tooth H. The Peroneal Type of Progressive Muscular Atrophy. London, UK: Lewis HK; 1886.
-
Tooth H. The Peroneal Type of Progressive Muscular Atrophy. London, UK: Lewis HK; 1886.
-
-
-
-
8
-
-
0018404398
-
Bilateral abductor vocal cord paralysis in Charcot-Marie-Tooth disease
-
Holinger PC, Holinger LD, Vuckovitch DM, et al. Bilateral abductor vocal cord paralysis in Charcot-Marie-Tooth disease. Ann Otol 1979;88:205-208.
-
(1979)
Ann Otol
, vol.88
, pp. 205-208
-
-
Holinger, P.C.1
Holinger, L.D.2
Vuckovitch, D.M.3
-
9
-
-
0028356510
-
Hereditary motor and sensory neuropathy with diaphragm and vocal paresis
-
Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal paresis. Ann Neurol 1994;35:608-615
-
(1994)
Ann Neurol
, vol.35
, pp. 608-615
-
-
Dyck, P.J.1
Litchy, W.J.2
Minnerath, S.3
-
10
-
-
0030011973
-
Genetic heterogeneity in Charcot-Marie-Tooth type II
-
Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth type II. Neurology 1996;46:569-571.
-
(1996)
Neurology
, vol.46
, pp. 569-571
-
-
Yoshioka, R.1
Dyck, P.J.2
Chance, P.F.3
-
11
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
Thomas PK, Marques W, Davis MB, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques, W.2
Davis, M.B.3
-
12
-
-
0034050426
-
Cranial nerve involvement in Charcot-Marie-Tooth disease type 1 due to early growth response 2 gene mutation
-
Pareyson D, Taroni F, Boti S, et al. Cranial nerve involvement in Charcot-Marie-Tooth disease type 1 due to early growth response 2 gene mutation. Neurology 2000;54: 1696-1698.
-
(2000)
Neurology
, vol.54
, pp. 1696-1698
-
-
Pareyson, D.1
Taroni, F.2
Boti, S.3
-
13
-
-
0033048959
-
Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II
-
Dray TG, Robinson LR, Hillel AD. Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II. Arch Neurol 1999;56:863-865.
-
(1999)
Arch Neurol
, vol.56
, pp. 863-865
-
-
Dray, T.G.1
Robinson, L.R.2
Hillel, A.D.3
-
14
-
-
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, et al. 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 2003;13:341-346.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 341-346
-
-
Azzedine, H.1
Ruberg, M.2
Ente, D.3
-
15
-
-
0035098295
-
Familial bilateral vocal cord paralysis and Charcot-Marie-Tooth disease type II-C
-
Lacy PD, Hartley BE, Rutter MJ, et al. Familial bilateral vocal cord paralysis and Charcot-Marie-Tooth disease type II-C. Arch Otol 2001;127:322-324.
-
(2001)
Arch Otol
, vol.127
, pp. 322-324
-
-
Lacy, P.D.1
Hartley, B.E.2
Rutter, M.J.3
-
16
-
-
1542298938
-
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene
-
Stojkovic T, Latour P, Viet G, et al. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. Neuromuscul Disord 2004;14:261-264.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 261-264
-
-
Stojkovic, T.1
Latour, P.2
Viet, G.3
-
17
-
-
30144433703
-
Charcot-Marie-Tooth disease type 1 and pediatric true vocal fold paralysis
-
Boseley ME, Block I, Hartnick CJ. Charcot-Marie-Tooth disease type 1 and pediatric true vocal fold paralysis. Int J Pediatr Otorhinolarygol 2006;70:345-347.
-
(2006)
Int J Pediatr Otorhinolarygol
, vol.70
, pp. 345-347
-
-
Boseley, M.E.1
Block, I.2
Hartnick, C.J.3
-
18
-
-
55749093730
-
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP 1-associated neuropathy
-
Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP 1-associated neuropathy. Brain 2008;131: 3051-3061.
-
(2008)
Brain
, vol.131
, pp. 3051-3061
-
-
Sevilla, T.1
Jaijo, T.2
Nauffal, D.3
-
19
-
-
0041821401
-
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP 1 gene
-
Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP 1 gene. Brain 2003;126:2023-2033.
-
(2003)
Brain
, vol.126
, pp. 2023-2033
-
-
Sevilla, T.1
Cuesta, A.2
Chumillas, M.J.3
-
20
-
-
37049031687
-
A novel GDAP 1 mutation P78L responsible for CMT 4A disease in three Moroccan families
-
Bouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M. A novel GDAP 1 mutation P78L responsible for CMT 4A disease in three Moroccan families. Can J Neurol Sci 2007;34:421-426.
-
(2007)
Can J Neurol Sci
, vol.34
, pp. 421-426
-
-
Bouhouche, A.1
Birouk, N.2
Benomar, A.3
Ouazzani, R.4
Chkili, T.5
Yahyaoui, M.6
-
21
-
-
39449092292
-
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP 1 gene
-
Kabzinska D, Saifi GM, Drac H, et al. Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP 1 gene. Acta Myol 2007;26:108-111
-
(2007)
Acta Myol
, vol.26
, pp. 108-111
-
-
Kabzinska, D.1
Saifi, G.M.2
Drac, H.3
-
22
-
-
20244374986
-
Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005;42:358-365.
-
(2005)
J Med Genet
, vol.42
, pp. 358-365
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
-
23
-
-
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
-
24
-
-
64149125383
-
Mitochondrial complex I deficiency in GDAP 1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
-
Cassereau J, Chevrollier A, Gueguen N, et al. Mitochondrial complex I deficiency in GDAP 1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2009;10:145-150.
-
(2009)
Neurogenetics
, vol.10
, pp. 145-150
-
-
Cassereau, J.1
Chevrollier, A.2
Gueguen, N.3
-
25
-
-
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
-
26
-
-
76249112949
-
-
Online Mendelian Inheritance in Man database] March 9, 2001. Available at:, Accessed April 1, 2009
-
McKusick VA, Tiller GE, Kniffin CL, et al. Periaxin. [National Center For Biotechnology Information, Online Mendelian Inheritance in Man database] March 9, 2001. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id= 605725. Accessed April 1, 2009.
-
Periaxin
-
-
McKusick, V.A.1
Tiller, G.E.2
Kniffin, C.L.3
-
27
-
-
76249124143
-
-
Online Mendelian Inheritance in Man database] August 28, 1987. Available at:, Accessed April 1, 2009
-
McKusick VA, Chow DW, Kniffin CL, et al. Neurofilament protein. [National Center For Biotechnology Information, Online Mendelian Inheritance in Man database] August 28, 1987. Available at: http://www.ncbi.nlm.nih.gov/ entrez/dispomim.cgi?id=162280. Accessed April 1, 2009.
-
Neurofilament protein
-
-
McKusick, V.A.1
Chow, D.W.2
Kniffin, C.L.3
-
28
-
-
76249099571
-
-
Online Mendelian Inheritance in Man database] October 16, 1986. Available at:, Accessed April 1, 2009
-
McKusick VA, Kniffin CL, et al. Myelin protein zero. [National Center For Biotechnology Information, Online Mendelian Inheritance in Man database] October 16, 1986. Available at: http://www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=159440. Accessed April 1, 2009.
-
Myelin protein zero
-
-
McKusick, V.A.1
Kniffin, C.L.2
-
29
-
-
2442698922
-
Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
-
Baloh RH, Jen JC, Kim G, et al. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology 2004;62:1905-1906.
-
(2004)
Neurology
, vol.62
, pp. 1905-1906
-
-
Baloh, R.H.1
Jen, J.C.2
Kim, G.3
-
30
-
-
17244372630
-
Chronic cough as a manifestation of laryngeal hypersensitivity: Diagnosis and treatment
-
Lee B, Woo P. Chronic cough as a manifestation of laryngeal hypersensitivity: diagnosis and treatment. Ann Otol Rhinol Laryngol 2005;114:253-257.
-
(2005)
Ann Otol Rhinol Laryngol
, vol.114
, pp. 253-257
-
-
Lee, B.1
Woo, P.2
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