Results 151 to 160 of about 7,635 (221)

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission.
Chaouch A, Sternberg D, Barois A, Dusl M, Griffin H, Fontenille MJ, Bauche S, Stalberg E, Fournier E, Horn MA, Brochier G, Lochmuller H, van Ghelue M, Abicht A, de Bruyckere E, Issop Y, Ioos C, Loseth S, Laval SH, Eymard B, Cox D, Muller JS, Evangelista T, Nicole S, Hantai D, Torbergsen T   +25 more
core  

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report. [PDF]

Clin Case Rep
Zhao C, Li Y, Li J, Xiong J.
europepmc   +1 more source

Multi-Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study. [PDF]

J Cachexia Sarcopenia Muscle
Mathy CS, Gast LV, Holtzhausen C, Gerhalter T, Stuprich C, Türk M, Heiss R, Marty B, Laun FB, Wanschitz JV, Hametner S, Dörfler A, Uder M, Bäuerle T, Nagel AM, Schröder R.   +15 more
europepmc   +1 more source

Spaghetti meat and gaping in broilers: emerging myopathies challenging poultry meat quality and processing. [PDF]

Poult Sci
Tushar ZH, Barbut S, Naeem M, Kumar R, Raut R, Bourassa DV.   +5 more
europepmc   +1 more source

First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1. [PDF]

J Clin Neurol
Lee K, Mitsutake A, Ishiura H, Park HJ.
europepmc   +1 more source

Immunogenetics of Idiopathic Inflammatory Myopathies: The Role of HLA Genes Within and Beyond the Ancestral Haplotype. [PDF]

Genes (Basel)
Gumkowska-Sroka O, Kotyla K, Kotyla P.
europepmc   +1 more source

Myxovirus Resistance A Protein Expression in Idiopathic Inflammatory Myopathies and Hereditary Muscle Diseases with Inflammatory Cell Infiltration: A North African Study. [PDF]

Int J Mol Sci
Farhat E, Zamali I, Younes TB, Klaa H, Stenzel W, Samoud S, Ben Rhouma H, Galai Y, Ben Youssef-Turki I, Kraoua I, Ben Ahmed M, Ben Hmid A.   +11 more
europepmc   +1 more source

Immune Myositis Complicating Follicular Lymphoma: Case Report. [PDF]

Reports (MDPI)
Zacharia GS, Ajai Mokan Dasan SL, Iwuaba C.   +2 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source