Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy-Reference-Cited by-同舟云学术

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

Published:2014-10-30 Issue:6 Volume:50 Page:1011-1016
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Castiglioni Claudia¹,Cassandrini Denis²,Fattori Fabiana³,Bellacchio Emanuele³,D'Amico Adele³,Alvarez Karin⁴,Gejman Roger⁵,Diaz Jorge⁶,Santorelli Filippo M.²,Romero Norma B.⁷,Bertini Enrico³,Bevilacqua Jorge A.⁸

Affiliation:

1. Unidad de Neurología. Departamento de Pediatría; Clínica las Condes; Lo Fontecilla 441 Las Condes Santiago Chile

2. IRCCS Stella Maris-Molecular Medicine Unit; Pisa Italy

3. Laboratory of Molecular Medicine; Bambino Gesù Children's Hospital IRCCS; Rome Italy

4. Laboratorio de Genética Molecular y Oncología; Clínica Las Condes; Santiago Chile

5. Departamento de Patología. Escuela de Medicina; Pontificia Universidad Católica; Santiago Chile

6. Centro de Imagenología; Hospital Clínico Universidad de Chile; Santiago Chile

7. Institut de Myologie, Unité de Morphologie Neuromusculaire; GHU La Pitié-Salpêtrière; Paris France

8. Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile and ICBM, Facultad de Medicina; Universidad de Chile; Santiago Chile

Funder

Fondo Nacional de Desarrollo Científico y Tecnológico

Office of International Activities of the Bambino Gesu Hospital

Finalizzata

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference24 articles.

1. Recent advances in nemaline myopathy;Romero;Curr Opin Neurol,2013

2. Identification of KLHL41 Mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy;Gupta;Am J Hum Genet,2013

3. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010

4. 161st ENMC International Workshop on Nemaline Myopathy and Related Disorders, Newcastle upon Tyne, 2008;Laing;Neuromuscul Disord,2009

5. Pathology of congenital nemaline myopathy. A follow-up study;Wallgren-Pettersson;J Neurol Sci,1988

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