Xmea Myopathy

INFORMAZIONI GENERALI 13° Congresso Nazionale AIM ...
10.00-10.30 X-linked myopathy with excessive autophagy (XMEA) A. Ruggieri (Toronto - CA) 10.30-11.00 Malattia di Danon A. Toscano (Messina) 11.00-11.30 Coffee-break 11.30-12.30 Lettura Magistrale GNE myopathy and autophagy I. Nishino (Tokyo - J) ... Retrieve Here

Cardiomyopathy. Acid Maltase Activity Of The Muscle Was ...
Myopathy with excessive autophagy (XMEA)3 and infantile autophagic 4vacuolar myopathy (AVM). These myopathies share a unique pathologic feature: vacuolar membranes with sarcolemmal features. In addition to these three well-characterized diseases, there ... Return Document

Copyright © 2008 By AAN Enterprises, Inc. 4. Kalimo H ...
The authors thank Dr. Brenda Banwell for bringing the American XMEA family, key to the progress in this work, to the attention of the corre-sponding author. 1. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006;13:90–95. 2. NishinoI,FuJ,TanjiK,etal.PrimaryLAMP-2deficiency ... Access Doc

8th French Japanese Workshop On MD_2009_July_3_4
The predominant phenotype was characterized by myopathy with scapulo-peroneal and/or axial distribution, From that time on we could analyze five new cases of XMEA, belonging to three families, in our Institute. Clinical, pathological, and biological data of these cases will be presented. ... View Doc

13° CONGRESSO NAZIONALE - Miologia.org
10.00-10.30 X-linked myopathy with excessive autophagy (XMEA) A. Ruggieri (Toronto - CA) 10.30-11.00 Malattia di Danon P15 Scapulohumeral myopathy in a family with a reduced 161D4Z4PAS allele: is this the right connection? A. Todeschini (Brescia) ... Fetch Here

Kasutaja:Jpaats/V-tüüpi ATPaasid - Vikipeedia, Vaba ...
Vakuolaarset-tüüpi H +-ATPaasid (V-ATPaasid) on kõrgelt konserveerunud evolutsiooniliselt vanad ensüümid, millel on märkimisväärselt palju erinevaid funktsioone eukarüootsetes organismides. V-ATPaasid muudavad mitmeid rakusiseseid organelle happeliseks ning pumpavad prootoneid eri ... Read Article

Www.biomedcentral.com
CoreProteome Accession Entry name Gene names Protein names P31946 1433B_HUMAN YWHAB 14-3-3 protein beta/alpha (Protein kinase C inhibitor protein 1) (KCIP-1) (Protein 1054) [Cleaved into: 14-3-3 protein beta/alpha, N-terminally processed] ... Retrieve Here

Marina Fanin Eva Masiero Corrado Angelini Marco Europe PMC ...
XMEA X-linked myopathy with excessive autophagy V-ATPase vacuolar-type H+-ATPase GAA-KO acid alpha-glucosidase-knockout PGC1α peroxisome proliferator-activated receptor gamma coactivator 1-alpha ERT enzyme replacement therapy ... Read Content

16th Schoolof Myology Paris, June2013
Miscellaneous XMEA (myopathy+ excessive autophagy) MODE OF INHERITANCE & NMD. AutosomalDominant (AD) inheritance Metabolic HereditaryInclusion Body Myopathy(h-IBM, GNE) Pompe disease. Classification basedon ageof onset (examples) ... View This Document

Lysosomal-mediated Waste Clearance In Retinal Pigment ...
[S. cerevisiae]) cause X-linked myopathy with excessive autophagy (XMEA), a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle resulting from an autophagy defect associated with decreased V-ATPase activity ... Retrieve Doc

PUBLICATIONS Up To 2015 Satu K. Jääskeläinen
Niemi P, Kalimo H: Electrophysiologic findings in X-linked myopathy with excessive autophagy (XMEA). Ann Neurol 2002;51:648-652. WoS: 4 Scopus: 7 IF: 11.91 1.31. Kaisti KK, Metsähonkala L,Teräs M, Oikonen V, Aalto S, Jääskeläinen S, Hinkka S, ... Get Content Here

Linked vacoulated myopathy (XMEA/XVM). Ann Neurol 2002;51:648-652. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, de Seze J, Peltonen L, Richard I. Udd B. Tibial muscular dystrophy (TMD) is a titinopathy – caused by ... Read Here

SOURCE (OR PART OF THE FOLLOWING SOURCE): FULL BIBLIOGRAPHIC ...
X-linked myopathy 310440 Xq28 XMEA Vacuole XMEA Vacuolar myopathy Muscular dystrophy 601846 19p13 MDRV Vacuoles with vacuoles MDRV Autophagic vacuolar 609500 unknown unknown Vacuoles myopathy Neuronal Ceroid Lipofuscinoses (NCL) SAPs: sphingolipid activator proteins, SCMAS: ... Document Viewer

Lysosomal Myopathies - Scientific Information Database
The most common one in Iran is hereditary inclusion body myopathy known as Nonaka myopathy or distal myopathy with rimmed vacuoles. (XMEA), infantile autophagic vacuolar myopathy, adult-onset autophagic vacuolar myopathy with multiorgan involvement and ... Content Retrieval

PROGRAMMA SCIENTIFICO Giovedì, 16 Maggio
10.00-10.30 X-linked myopathy with excessive autophagy (XMEA) A. Ruggieri 10.30-11.00 Malattia di Danon A. Toscano 11.00-11.30 Coffee-break 11.30-12.30 Lettura Magistrale GNE myopathy and autophagy I. Nishino 12.30-13.30 COMUNICAZIONI ORALI (4 comunicazioni) ... Return Doc

Myopathy, X-linked, With Excessive Autophagy - Wikipedia, The ...
X-linked myopathy with excessive autophagy (XMEA) is a rare childhood onset disease characterized by slow progressive vacuolation and atrophy of skeletal muscle. ... Read Article

V-ATPase - Wikipedia, The Free Encyclopedia
X-linked myopathy with excessive autophagy (XMEA) X The Vma21 protein assists in assembly of the V-ATPase, and XMEA associated mutations result in decreased activity of the V-ATPase and increased lysosomal pH. [9] Nomenclature ... Read Article

T He History - Thailand.digitaljournals.org
164 SpecialIssue T he history Neuromuscular disorders refer to a variety of disorders affecting the motor units including anterior horn cells, nerves, neuromuscular junctions and ... View Full Source

SOURCE (OR PART OF THE FOLLOWING SOURCE): FULL BIBLIOGRAPHIC ...
X-linked myopathy 310440 Xq28 XMEA Vacuole XMEA Vacuolar myopathy Muscular dystrophy 601846 19p13 MDRV Vacuoles with vacuoles MDRV Autophagic vacuolar 609500 unknown unknown Vacuoles myopathy Neuronal Ceroid Lipofuscinoses (NCL) SAPs: sphingolipid activator proteins, SCMAS: ... Doc Viewer

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