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Ferreira C ; Pierre G ; Thompson R ; Vernon H | 09/07/2020nitial Posting: October 9, 2014; Last Update: July 9, 2020. Clinical characteristics. Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...]Article
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Prasun P | 18/06/2020Clinical characteristics. Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenita[...]Article
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Thompson R ; Spendiff S ; Roos A ; Bourque PR ; Warman-Chardon J ; Kirschner J ; Horvath R ; Lochmuller H | England | 06/2020Article
Zuchner S | 14/05/2020Initial Posting: February 18, 2005; Last Update: May 14, 2020. Clinical characteristics. MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal domi[...]Article
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Grigoratos C ; Aimo A ; Barison A ; Castiglione V ; Todiere G ; Ricci G ; Siciliano G ; Emdin M | England | 05/2020Article
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Elsea SH ; Solyom A ; Martin K ; Harmatz P ; Mitchell J ; Lampe C ; Grant C ; Selim L ; Mungan NO ; Guelbert N ; Magnusson B ; Sundberg E ; Puri R ; Kapoor S ; Arslan N ; DiRocco M ; Zaki M ; Ozen S ; Mahmoud IG ; Ehlert K ; Hahn A ; Gokcay G ; Torcoletti M ; Ferreira CR | United States | 05/2020Article
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Carrillo N ; Malicdan MC ; Huizing M | 09/04/2020Initial Posting: March 26, 2004; Last Update: April 9, 2020. Clinical characteristics. GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibial[...]Article
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Stunnenberg B ; LoRusso S ; Arnold WD ; Barohn RJ ; Cannon SC ; Fontaine B ; Griggs RC ; Hanna MG ; Matthews E ; Meola G ; Sansone VA ; Trivedi JR ; van Engelen B ; Vicart S ; Statland JM | United States | 04/2020Article
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Pradat PF ; Bernard E ; Corcia P ; Couratier P ; Jublanc C ; Querin G ; Morelot-Panzini C ; Salachas F ; Vial C ; Wahbi K ; Bede P ; Desnuelle C | 04/2020Article
Schoser B | 19/03/2020Initial Posting: September 21, 2006; Last Update: March 19, 2020. Clinical characteristics. Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less[...]Article
Wan HWY ; Carey KA ; D'Silva A ; Vucic S ; Kiernan MC ; Kasparian NA ; Farrar MA | England | 03/2020Article
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Chung MP ; Richardson C ; Kirakossian D ; Orandi AB ; Saketkoo LA ; Rider LG ; Schiffenbauer A ; von Muhlen CA ; Chung L | Netherlands | 03/2020Article
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Perego MGL ; Galli N ; Nizzardo M ; Govoni A ; Taiana M ; Bresolin N ; Comi GP ; Corti S | Switzerland | 03/2020Article
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Asher DR ; Thapa K ; Dharia SD ; Khan N ; Potter RA ; Rodino-Klapac LR ; Mendell JR | England | 03/2020Article
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Cerrato F ; Sparago A ; Ariani F ; Brugnoletti F ; Calzari L ; Coppede F ; de Luca A ; Gervasini C ; Giardina E ; Gurrieri F ; Lo Nigro C ; Merla G ; Miozzo M ; Russo S ; Sangiorgi E ; Sirchia SM ; Squeo GM ; Tabano S ; Tabolacci E ; Torrente I ; Genuardi M ; Neri G ; Riccio A | Switzerland | 03/2020Article
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Conte E ; Bresciani E ; Rizzi L ; Cappellari O ; de Luca A ; Torsello A ; Liantonio A | 13/02/2020Article
Preston MK ; Tawil R ; Wang LH | 06/02/2020Initial Posting: March 8, 1999; Last Update: February 6, 2020. Clinical characteristics. Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexor[...]Article
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Plaud B ; Baillard C ; Bourgain JL ; Bouroche G ; Desplanque L ; Devys JM ; Fletcher D ; Fuchs-Buder T ; Lebuffe G ; Meistelman C ; Motamed C ; Raft J ; Servin F ; Sirieix D ; Slim K ; Velly L ; Verdonk F ; Debaene B | France | 02/2020Article
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Willmann R ; Lee J ; Turner C ; Nagaraju K ; Aartsma Rus A ; Wells DJ ; Wagner KR ; Csimma C ; Straub V ; Grounds MD ; de Luca A | England | 02/2020Article
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Collectif | Bethesda - Maryland [USA] : National Institute of Diabetes and Digestive and Kidney Diseases | 02/2020[Updated 2020 Feb 27] Introduction Eteplirsen is synthetic antisense oligonucleotide designed to cause skipping of abnormal exons during synthesis of the dystrophin gene and that is used to treat Duchenne muscular dystrophy. Clinical experienc[...]Article
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Collectif | Bethesda - Maryland [USA] : National Institute of Diabetes and Digestive and Kidney Diseases | 02/2020[Updated 2020 Feb 27]. Golodirsen is synthetic antisense oligonucleotide designed to cause skipping of abnormal exons in the synthesis of the dystrophin gene and that is used to treat Duchenne muscular dystrophy. Golodirsen has not been reporte[...]Article