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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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Megarbane A ; Bizzari S ; Deepthi A ; Sabbagh S ; Mansour H ; Chouery E ; Hmaimess G ; Jabbour R ; Mehawej C ; Alame S ; Hani A ; Hasbini D ; Ghanem I ; Koussa S ; Al Ali MT ; Obeid M ; Talea DB ; Lefranc G ; Levy N ; Leturcq F ; El Hayek S ; Delague V ; Urtizberea JA | Netherlands | 2022Article
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Elman L ; Youn B ; Proud CM ; Frey MR ; Ajroud-Driss S ; McCormick ME ; Michelson D ; Cartwright MS ; Heiman Patterson T ; Choi JM ; Chandak A ; Khachatryan A ; Martinez M ; Paradis AD | Netherlands | 2022Article
Matteson J ; Wu CH ; Mathur D ; Tang H ; Sciortino S ; Feuchtbaum L ; Bishop T ; Sharma SC ; Neogi P ; Fitzgibbon I ; Olney RS | Netherlands | 2022Article
Bortolani S ; Brusa C ; Rolle E ; Monforte M ; De Arcangelis V ; Ricci E ; Mongini TE ; Tasca G | England | 28/12/2021Article
Villarreal-Salazar M ; Brull A ; Nogales Gadea G ; Andreu AL ; Martin MA ; Arenas J ; Santalla A ; Lucia A ; Vissing J ; Krag TO ; Pinos T | 28/12/2021Article
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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
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Chalayer E ; Gramont B ; Zekre F ; Goguyer-Deschaumes R ; Waeckel L ; Grange L ; Paul S ; Chung AW ; Killian M | Netherlands | 14/12/2021Article
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Lundberg IE ; Fujimoto M ; Vencovsky J ; Aggarwal R ; Holmqvist M ; Christopher Stine L ; Mammen AL ; Miller FW | England | 02/12/2021Article
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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
Lazovic M ; Nikolic D ; Boyer FC ; Borg K ; Ceravolo MG ; Zampolini M ; Kiekens C | Italy | 26/11/2021Article
Barroso de Queiroz Davoli G ; Barroso de Queiroz Davoli G ; Bartels B ; Mattiello-Sverzut AC ; Takken T | England | 26/11/2021Article
Gossios TD ; Providencia R ; Creta A ; Segal OR ; Nikolenko N ; Turner C ; Lopes LR ; Wahbi K ; Savvatis K | United States | 26/11/2021Article
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