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Hershberger RE ; Jordan E | 07/04/2022Initial Posting: July 27, 2007; Last Update: April 7, 2022. The purpose of this overview is to increase clinician awareness of the genetic basis of dilated cardiomyopathy (DCM) and the benefits of early diagnosis and management to individuals[...]Article
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Capitanio D ; Moriggi M ; Barbacini P ; Torretta E ; Moroni I ; Blasevich F ; Morandi L ; Mora M ; Gelfi C | 27/02/2022Article
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Laporte A ; Mariampillai K ; Allenbach Y ; Pasi N ; Donciu V ; Toledano D ; Granger B ; Benveniste O ; Grenier PA ; Boussouar S | Germany | 13/01/2022Article
Schreuder AB ; Rossi A ; Grünert SC ; Derks TGJ | 06/01/2022Initial Posting: March 9, 2010; Last Update: January 6, 2022. Clinical characteristics. Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most c[...]Article
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Breillat P ; Mariampillai K ; Legendre P ; Martins P ; Dunogue B ; Charuel JL ; Miyara M ; Goulvestre C ; Paule R ; Vanquaethem H ; Ackermann F ; Benveniste O ; Nunes H ; Mouthon L ; Allenbach Y ; Uzunhan Y | England | 2022Article
Abicht A ; Müller J ; Lochmuller H | 23/12/2021Initial Posting: May 9, 2003; Last Update: December 23, 2021. The purpose of this overview is to increase the awareness of clinicians regarding congenital myasthenic syndromes (CMS) and their genetic causes and management. The following ar[...]Article
Tanboon J ; Inoue M ; Saito Y ; Tachimori H ; Hayashi S ; Noguchi S ; Okiyama N ; Fujimoto M ; Nishino I | United States | 06/12/2021Article
Lundberg IE ; Fujimoto M ; Vencovsky J ; Aggarwal R ; Holmqvist M ; Christopher Stine L ; Mammen AL ; Miller FW | England | 02/12/2021Article
General features This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear [...]Article
Zoske J ; Schneider U ; Siegert E ; Kleefeld F ; Preusse C ; Stenzel W ; Hahn K | 15/11/2021Article
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Veneruso M ; Fiorillo C ; Broda P ; Baratto S ; Traverso M ; Donati A ; Savasta S ; Falsaperla R ; Mancardi MM ; Pedemonte M ; Panicucci C ; Piatelli G ; Pacetti M ; Moscatelli A ; Ramenghi LA ; Nobili L ; Minetti C ; Bruno C | 05/10/2021Article
Pinto WBVR ; Pinto WBVR ; Souza PVS ; Badia BML ; Farias IB ; Albuquerque Filho JMV ; Goncalves EA ; Machado RIL ; Oliveira ASB | Brazil | 10/2021Article
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Pozsgai E ; Griffin D ; Potter R ; Sahenk Z ; Lehman K ; Rodino-Klapac LR ; Mendell JR | England | 02/09/2021Article
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Korinthenberg R ; Trollmann R ; Plecko B ; Stettner GM ; Blankenburg M ; Weis J ; Schoser B ; Muller Felber W ; Lochbuehler N ; Hahn G ; Rudnik Schoneborn S | 09/08/2021Article
Charnay T ; Blanck V ; Cerino M ; Bartoli M ; Riccardi F ; Bonello-Palot N ; Pêcheux C ; Nguyen K ; Levy N ; Gorokhova S ; Krahn M | United States | 08/2021Article
Initial Posting: June 8, 2000; Last Update: July 29, 2021.Article
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Birtel J ; von Landenberg C ; Gliem M ; Gliem C ; Reimann J ; Kunz WS ; Herrmann P ; Betz C ; Caswell R ; Nesbitt V ; Kornblum C ; Issa PC | United States | 10/07/2021Article
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Georganopoulou DG ; Moisiadis VG ; Malik FA ; Mohajer A ; Dashevsky TM ; Wuu ST ; Hu CK | 10/06/2021Article
Aoki M ; Takahashi T | 27/05/2021Initial Posting: February 5, 2004; Last Update: May 27, 2021. Clinical characteristics. Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular [...]Article
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Natera-de Benito D ; Foley AR ; Dominguez Gonzalez C ; Ortez C ; Jain M ; Mebrahtu A ; Donkervoort S ; Hu Y ; Fink M ; Yun P ; Ogata T ; Medina J ; Vigo M ; Meilleur KG ; Leach ME ; Dastgir J ; Diaz-Manera J ; Carrera Garcia L ; Exposito Escudero J ; Alarcon M ; Cuadras D ; Montiel-Morillo E ; Milisenda JC ; Dominguez-Rubio R ; Olive M ; Colomer J ; Jou C ; Jimenez-Mallebrera C ; Bonnemann CG ; Nascimento A | United States | 13/01/2021Article
Velez-Bartolomei F ; Lee C ; Enns G | 07/01/2021Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized[...]Article
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Prior TW ; Leach ME ; Finanger E | 3/12/2020Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of t[...]Article
Extract from ScienceDirect onlien access to Neuromuscular Disorders : General features This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic [...]Article
Pinal Fernandez I ; Casal-Dominguez M ; Derfoul A ; Pak K ; Miller FW ; Milisenda JC ; Grau-Junyent JM ; Selva-O Callaghan A ; Carrion-Ribas C ; Paik JJ ; Albayda J ; Christopher Stine L ; Lloyd TE ; Corse AM ; Mammen AL | England | 06/2020Article
Allenbach Y ; Uzunhan Y ; Toquet S ; Leroux G ; Gallay L ; Marquet A ; Meyer A ; Guillaud C ; Limal N ; Gagnadoux F ; Hervier B ; Borie R ; Deligny C ; Terrier B ; Berezne A ; Audia S ; Champtiaux N ; Devilliers H ; Voermans N ; Diot E ; Servettaz A ; Marhadour T ; Castelain V ; Humbert S ; Blanchard-Delaunay C ; Tieulie N ; Charles P ; Gerin M ; Mekinian A ; Priou P ; Meurice JC ; Tazi A ; Cottin V ; Miyara M ; Grange B ; Israel-Biet D ; Phin-Huynh S ; Bron C ; De Saint Martin L ; Fabien N ; Mariampillai K ; Nunes H ; Benveniste O | United States | 06/2020Article
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Rodriguez Lopez C ; Garcia-Cardaba LM ; Blazquez A ; Serrano-Lorenzo P ; Gutierrez Gutierrez G ; San Millan-Tejado B ; Muelas N ; Hernandez Lain A ; Vilchez JJ ; Gutierrez-Rivas E ; Arenas J ; Martin MA ; Dominguez Gonzalez C | England | 03/2020