-
1
-
-
33947532003
-
Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder
-
Fontaine B., Fournier E., Sternberg D., et al. Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder. Neurotherapeutics 2007, 4:225-232.
-
(2007)
Neurotherapeutics
, vol.4
, pp. 225-232
-
-
Fontaine, B.1
Fournier, E.2
Sternberg, D.3
-
2
-
-
9144223871
-
Electromyography guides toward subgroups of mutations in muscle channelopathies
-
Fournier E., Arzel M., Sternberg D., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004, 56:650-661.
-
(2004)
Ann Neurol
, vol.56
, pp. 650-661
-
-
Fournier, E.1
Arzel, M.2
Sternberg, D.3
-
3
-
-
33749493507
-
Cold extends electromyography distinction between ion channel mutations causing myotonia
-
Fournier E., Viala K., Gervais H., et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006, 60:356-365.
-
(2006)
Ann Neurol
, vol.60
, pp. 356-365
-
-
Fournier, E.1
Viala, K.2
Gervais, H.3
-
4
-
-
38949093633
-
Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene
-
Gay S., Dupuis D., Faivre L., et al. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008, 146:380-383.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 380-383
-
-
Gay, S.1
Dupuis, D.2
Faivre, L.3
-
5
-
-
15544362767
-
Physiological functions of CLC Cl-channels gleaned from human genetic disease and mouse models
-
Jentsch T.J., Poet M., Fuhrmann J.C., et al. Physiological functions of CLC Cl-channels gleaned from human genetic disease and mouse models. Annu Rev Physiol 2005, 67:779-807.
-
(2005)
Annu Rev Physiol
, vol.67
, pp. 779-807
-
-
Jentsch, T.J.1
Poet, M.2
Fuhrmann, J.C.3
-
6
-
-
77955856284
-
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder
-
Lion-François L., Mignot C., Vicart S., et al. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder. Neurology 2010, 75:641-645.
-
(2010)
Neurology
, vol.75
, pp. 641-645
-
-
Lion-François, L.1
Mignot, C.2
Vicart, S.3
-
7
-
-
58149268452
-
Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype
-
Matthews E., Guet A., Mayer M., et al. Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype. Neurology 2008, 71:1740-1742.
-
(2008)
Neurology
, vol.71
, pp. 1740-1742
-
-
Matthews, E.1
Guet, A.2
Mayer, M.3
-
8
-
-
2942704134
-
Treatment in myotonia and periodic paralysis
-
Meola G., Sansone V. Treatment in myotonia and periodic paralysis. Rev Neurol (Paris) 2004, 160:S55-S69.
-
(2004)
Rev Neurol (Paris)
, vol.160
-
-
Meola, G.1
Sansone, V.2
-
9
-
-
0033662239
-
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
-
Nicole S., Davoine C.S., Topaloglu H., et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000, 26:480-483.
-
(2000)
Nat Genet
, vol.26
, pp. 480-483
-
-
Nicole, S.1
Davoine, C.S.2
Topaloglu, H.3
-
10
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster N.M., Tawil R., Tristani-Firouzi M., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
-
11
-
-
0342618296
-
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995
-
Rüdel R., Lehmann-Horn F. Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. Neuromuscul Disord 1997, 7:127-132.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 127-132
-
-
Rüdel, R.1
Lehmann-Horn, F.2
-
12
-
-
0028298042
-
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil R., Ptacek L.J., Pavlakis S.G., et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994, 35:326-330.
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
-
13
-
-
30344434616
-
The primary periodic paralyses: diagnosis, pathogenesis and treatment
-
Venance S.L., Cannon S.C., Fialho D., et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006, 129:8-17.
-
(2006)
Brain
, vol.129
, pp. 8-17
-
-
Venance, S.L.1
Cannon, S.C.2
Fialho, D.3
-
14
-
-
10444273389
-
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis
-
Vicart S., Sternberg D., Fournier E., et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. Neurology 2004, 63:2120-2127.
-
(2004)
Neurology
, vol.63
, pp. 2120-2127
-
-
Vicart, S.1
Sternberg, D.2
Fournier, E.3
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