Results 201 to 210 of about 38,417 (217)

CONGENITAL MYOPATHIES (CNM)

Neuromuscular Disorders, 2018
M. Annoussamy, C. Lilien, T. Gidaro, V. Chê, U. Schara, A. D'Amico, J. Dowling, B. Darras, A. Daron, M. Mayer, A. Hernandez, C. Vuillerot, S. Fontaine, C. deLattre, R. Bellance, V. Biancalana, A. Buj-Bello, JR. Hogrel, H. Landy, L. Servais, null NatHis-MTM Study group   +20 more
openaire   +1 more source

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

Neuromuscular Disorders, 2021
Juliana Gurgel-Giannetti, Lucas S Souza, Guilherme Ferraz Messina De Pádua Andrade   +2 more
exaly  

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Acta Neuropathologica, 2016
Rachel Straussberg, Menachem Sadeh, Peter F M Van der Ven   +2 more
exaly  

Congenital inflammatory myopathy: A demonstrative case and proposed diagnostic classification

Muscle and Nerve, 2002
Catherine Ross
exaly  

The spectrum of cytoplasmic body myopathy: Report of a congenital severe case

Brain and Development, 1989
Yasuhide Nakamura, Yuji Mizuno
exaly  

CONGENITAL MYOPATHIES: NEMALINE MYOPATHIES

Neuromuscular Disorders, 2019
J. Tinklenberg, R. Slick, M. Vanden Avond, M. Beatka, M. Prom, E. Siebers, H. Meng, M. Grzybowski, J. Heisner, J. Ross, J. Ochala, K. Nowak, L. Zhang, A. Geurts, D. Stowe, F. Montanaro, M. Lawlor   +16 more
openaire   +1 more source

Congenital nemaline myopathy with dilated cardiomyopathy: An autopsy study

Human Pathology, 1990
H Ishibashi-Ueda, Masami Imakita
exaly  

Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Syndrome: A Mixed Congenital Myopathy

Neuropediatrics, 2001
Lev Goldfarb, M Albani
exaly  

Congenital myopathy with excess of thin myofilaments

Neuromuscular Disorders, 1997
H Goebel, J R Anderson
exaly  

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

Neuromuscular Disorders, 2014
Nanna Witting, Ulla Werlauff, Helle Petri   +2 more
exaly