-
1
-
-
67649390851
-
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
-
Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease, lancet Neurol 2009; 8: 654-67.
-
(2009)
Lancet Neurol
, vol.8
, pp. 654-667
-
-
Pareyson, D.1
Marchesi, C.2
-
2
-
-
34547666602
-
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood
-
Ouvrier R, Geevasingha N, Ryann MM. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007 ; 36:131-43.
-
(2007)
Muscle Nerve
, vol.36
, pp. 131-143
-
-
Ouvrier, R.1
Geevasingha, N.2
Ryann, M.M.3
-
3
-
-
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
-
5
-
-
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
-
6
-
-
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
-
7
-
-
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
-
8
-
-
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
-
9
-
-
0032866609
-
Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
-
Tabaraud F, Lagrange E, Sindou P, et al. Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 1999 ; 22:1442-7.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1442-1447
-
-
Tabaraud, F.1
Lagrange, E.2
Sindou, P.3
-
10
-
-
60149083988
-
Wrabetz L Molecular mechanisms of inherited demyelinating neuropathies
-
Scherer SS, Wrabetz L Molecular mechanisms of inherited demyelinating neuropathies. Glia 2008 ; 56:1578-89.
-
(2008)
Glia
, vol.56
, pp. 1578-1589
-
-
Scherer, S.S.1
-
11
-
-
33645276591
-
Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies
-
Zuchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006 ; 2:45-53.
-
(2006)
Nat Clin Pract Neurol
, vol.2
, pp. 45-53
-
-
Zuchner, S.1
Vance, J.M.2
-
12
-
-
75749129360
-
Alterations in the ankynn domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
-
Auer-Grumbach M, Olschewski A, Papi L, et at. Alterations in the ankynn domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010 ; 42:160-4.
-
(2010)
Nat Genet
, vol.42
, pp. 160-164
-
-
Auer-Grumbach, M.1
Olschewski, A.2
Papi, L.3
-
13
-
-
75749083221
-
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
-
Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010 ; 42:165-9.
-
(2010)
Nat Genet
, vol.42
, pp. 165-169
-
-
Deng, H.X.1
Klein, C.J.2
Yan, J.3
-
14
-
-
75749139617
-
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
-
Landouré G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010; 42:170-4.
-
(2010)
Nat Genet
, vol.42
, pp. 170-174
-
-
Landouré, G.1
Zdebik, A.A.2
Martinez, T.L.3
-
15
-
-
78149254161
-
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: Molecular data, functional studies of the SH3 recognition motif and correlation between wildtype MED25 and PMP22 RNA levels in CMTlA animal models
-
(sous presse)
-
Leal A, Huehne K, Bauer F, et al. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wildtype MED25 and PMP22 RNA levels in CMTlA animal models. Neurogenetics 2010 (sous presse).
-
(2010)
Neurogenetics
-
-
Leal, A.1
Huehne, K.2
Bauer, F.3
-
16
-
-
78149259540
-
De la levure aux maladies neurodegeneratives: Dix ans d'exploration des pathologies de la dynamique mitochondriale
-
Lenaers G, Amati-Bonneau P, Delettre C, et al. De la levure aux maladies neurodegeneratives : dix ans d'exploration des pathologies de la dynamique mitochondriale. Med Sci (Paris) 2010 ; 26:836-41.
-
(2010)
Med Sci (Paris)
, vol.26
, pp. 836-841
-
-
Lenaers, G.1
Amati-Bonneau, P.2
Delettre, C.3
-
17
-
-
78149258770
-
Dynamique et morphologie mitochondriales: Acteurs, mécanismes et pertinence fonctionnelle
-
Sauvanet C, Arnauné-Pelloquin L, David C. Dynamique et morphologie mitochondriales : acteurs, mécanismes et pertinence fonctionnelle. Med Sci (Paris) 2010 ; 26: 823-9.
-
(2010)
Med Sci (Paris)
, vol.26
, pp. 823-829
-
-
Sauvanet, C.1
Arnauné-Pelloquin, L.2
David, C.3
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