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Skocz do pozycji: 1 1.

Title :

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant

Authors :

Avila-Smirnow, Daniela

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In Neuromuscular Disorders July 2020 30(7):554-561

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Skocz do pozycji: 2 2.

Title :

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

Authors :

Farinato, Alessandro

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In Pharmacological Research March 2019 141:224-235

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Skocz do pozycji: 3 3.

Title :

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Authors :

Krahn, MartinAff1, Aff2
Biancalana, Valérie
Cerino, MathieuAff1, Aff2
Perrin, AurélienAff4, Aff5
Michel-Calemard, Laurence
Nectoux, Juliette
Leturcq, France
Bouchet-Séraphin, Céline
Acquaviva-Bourdain, Cécile
Campana-Salort, EmmanuelleAff1, Aff10
Molon, Annamaria
Urtizberea, Jon Andoni
Audic, FrédériqueAff1, Aff10
Chabrol, Brigitte
Pouget, JeanAff1, Aff10
Froissart, Roseline
Melki, Judith
Rendu, JohnAff13, Aff14, Aff15
Petit, François
Métay, Corinne
Seta, Nathalie
Sternberg, Damien
Fauré, JulienAff13, Aff14, Aff15
Cossée, MireilleAff4, Aff5

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European Journal of Human Genetics. 27(3):349-352

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Skocz do pozycji: 4 4.

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Skocz do pozycji: 5 5.

Title :

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Authors :

Kokunai, Yosuke
Dalle, Carine
Vicart, SavineAff1, Aff2
Sternberg, DamienAff1, Aff2
Pouliot, ValérieAff3, Aff4
Bendahhou, Said
Fournier, EmmanuelAff1, Aff2
Chahine, MohamedAff3, Aff4
Fontaine, BertrandAff1, Aff2
Nicole, Sophie

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Scientific Reports. 8(1)

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Skocz do pozycji: 6 6.

Title :

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Authors :

Bauché, Stéphanie
Vellieux, Geoffroy
Sternberg, Damien
Fontenille, Marie-Joséphine
De Bruyckere, Elodie
Davoine, Claire-Sophie
Brochier, Guy
Messéant, Julien
Wolf, Lucie
Fardeau, Michel
Lacène, Emmanuelle
Romero, Norma
Koenig, Jeanine
Fournier, Emmanuel
Hantaï, Daniel
Streichenberger, Nathalie
Manel, Veronique
Lacour, Arnaud
Nadaj-Pakleza, Aleksandra
Sukno, Sylvie
Bouhour, Françoise
Laforêt, Pascal
Fontaine, Bertrand
Strochlic, Laure
Eymard, Bruno
Chevessier, Frédéric
Stojkovic, Tanya
Nicole, Sophie

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Journal of Neurology. August 2017 264(8):1791-1803

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Skocz do pozycji: 7 7.

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Skocz do pozycji: 8 8.

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Skocz do pozycji: 9 9.

Title :

Syndromes myasthéniques congénitaux — L’expérience française

Authors :

Eymard, Bruno

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Alternate Title :

Congenital myasthenic syndromes ; French experience (English)

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In Bulletin de l'Académie Nationale de Médecine February 2014 198(2):257-271

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Skocz do pozycji: 10 10.

Title :

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Authors :

Dupré, Nicolas

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In Neuromuscular Disorders 2009 19(5):330-334

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Skocz do pozycji: 11 11.

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Skocz do pozycji: 12 12.

Title :

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Authors :

Bauché, Stéphanie

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In The American Journal of Human Genetics 1 September 2016 99(3):753-761

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Skocz do pozycji: 13 13.

Title :

Hypokalemic Periodic Paralysis: A Model for a Clinical and Research Approach to a Rare Disorder

Authors :

Fontaine, Bertrand

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In Neurotherapeutics 2007 4(2):225-232

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Skocz do pozycji: 14 14.

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Skocz do pozycji: 15 15.

Title :

Gating defects of a novel Na + channel mutant causing hypokalemic periodic paralysis

Authors :

Carle, Thomas

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In Biochemical and Biophysical Research Communications 2006 348(2):653-661

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Skocz do pozycji: 16 16.

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Skocz do pozycji: 17 17.

Title :

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Authors :

Mejlachowicz, Dan

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In The American Journal of Human Genetics 1 October 2015 97(4):616-620

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Skocz do pozycji: 18 18.

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Skocz do pozycji: 19 19.

Title :

Syndromes myasthéniques congénitaux par mutation du gène ColQ : 2 familles, 2 mutations, 2 phénotypes

Authors :

Kediha, Mohamed Islam

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In Revue Neurologique April 2018 174 Supplement 1:S131-S131

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Skocz do pozycji: 20 20.

Title :

Variabilité phénotypique de la myotonie canal sodium au sein d’une famille à travers 4 générations

Authors :

Maguenouche, Schahrazed Linda

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In Revue Neurologique April 2018 174 Supplement 1:S39-S39

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