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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
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Vacchi C ; Sebastiani M ; Cassone G ; Cerri S ; Della Casa G ; Salvarani C ; Manfredi A | Switzerland | 02/2020Article
McNally EM ; Mann DL ; Pinto Y ; Bhakta D ; Tomaselli G ; Nazarian S ; Groh WJ ; Tamura T ; Duboc D ; Itoh H ; Hellerstein L ; Mammen PPA | England | 02/2020Article
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L’amyotrophie spinale ou SMA est la maladie génétique la plus fréquente menant à la mortalité infantile. Cette maladie neuromusculaire est due à l’altération du gène SMN1. Cette anomalie génétique provoque la réduction des taux de protéine Smn, [...]Article
On convient de dire qu’une génération est nécessaire pour faire émerger une nouvelle famille de médicaments. L’amyotrophie spinale infantile (SMA), après l’élucidation du gène causal en 1995, dispose depuis peu de deux classes innovantes de thér[...]Article
Nuckolls GH ; Kinnett K ; Dayanidhi S ; Domenighetti AA ; Duong T ; Hathout Y ; Lawlor MW ; Lee SSM ; Magnusson SP ; McDonald CM ; McNally EM ; Miller NF ; Olwin BB ; Raghavan P ; Roberts TJ ; Rutkove SB ; Sarwark JF ; Senesac CR ; Vogel LF ; Walter GA ; Willcocks RJ ; Rymer WZ ; Lieber RL | United States | 02/2020Article
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Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R | 16/01/2020Initial Posting: December 19, 2003; Last Update: January 16, 2020. Clinical characteristics. Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeleta[...]Article
Initial Posting: February 17, 2005; Last Update: January 2, 2020. Clinical characteristics. Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels aft[...]Article
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