Results 71 to 80 of about 121,688 (385)

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]

, 2017
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert, Borgia, Doriana, Gomes Pereira, Marcelo, Lieberman, Andrew P., Maino, Eleonora, Malena, Adriana, Marchioretti, Caterina, Milioto, Carmelo, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Plebani, Mario, Polanco, Maria J., Sambataro, Fabio, Sambataro, Fabio, Sorar, Gianni, Soraru', Gianni, Venturini, Roberta, Vergani, Lodovica   +18 more
core   +3 more sources

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report

SAGE Open Medical Case Reports
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in ...
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, Hisahide Nishio, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano   +6 more
doaj   +1 more source

Bimelic Hirayama Disease: Clinical Dilemma Solved by Imaging

Case Reports in Medicine, 2013
Hirayama disease (juvenile muscular atrophy of distal upper extremity) is a cervical myelopathy predominantly affecting adolescent males. It is characterized by progressive muscular weakness and atrophy of unilateral or asymmetrically bilateral distal ...
Shalabh Jain, Siddharth Yadav, Swarna Gupta, Ritu Gupta   +3 more
doaj   +1 more source

Distrofia muscular progressiva: alguns aspectos do diagnõstico diferencial

Arquivos de Neuro-Psiquiatria, 1960
The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made (infantile spinal muscular atrophy, amyotonia congenita ...
Sylvio Saraiva, Aron J. Diament, José Antonio Levy   +2 more
doaj   +1 more source

PROGRESSIVE MUSCULAR ATROPHY, ACUTE FORM [PDF]

The Journal of Nervous and Mental Disease, 1915
n ...
openaire   +3 more sources

Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome.

Frontiers in Bioscience, 2022
INTRODUCTION Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency.
A. Mirea, M. Leanca, G. Onose, Corina Sporea, L. Pădure, Elena-Silvia Shelby, Vlad Dima, C. Daia   +7 more
semanticscholar   +1 more source

Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in spinal muscular atrophy (SMA) patients in Malaysia [RJ482.A83 W333 2008 f rb]. [PDF]

, 2007
Spinal Muscular Atrophy (SMA) adalah sejenis penyakit kelemahan saraf otot yang akhirnya menyebabkan kemerosotan otot. Penyakit ini disebabkan oleh mutasi pada gen Survival Motor Neuron 1 (SMN1).
Mohd Shamshudin, Wati @ Hayati
core  

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Anesthetic Management of a Parturient with Spinal Muscle Atrophy for Cesarean Section: A Case Report

Archives of Anesthesia and Critical Care, 2020
Spinal muscular atrophy is a rare genetic neuromuscular disease characterized by loss of anterior horn cells of spinal cord and brain stem nuclei, resulting in progressive muscle weakness.
Maryam Vosoughian, Shideh Dabir, Mastaneh Dahi, Mohammadreza Moshari, Soudeh Tabashi, Firoozeh Madadi   +5 more
doaj   +1 more source