Results 121 to 130 of about 8,751 (233)

[Emery-Dreifuss muscular dystrophy: case report].

Arquivos de neuro-psiquiatria, 2006
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early ...
Ana Lucila Moreira, Carsten, Paulo José, Lorenzoni, Rosana Herminia, Scola, Lineu César, Werneck   +3 more
openaire   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +1 more source

Autosomal-Recessive LMNA Dilated Cardiomyopathy. [PDF]

JACC Case Rep
Sterner RM, Coon LM, Black JL, Moyer AM, Maleszewski JJ, Baudhuin LM.   +5 more
europepmc   +1 more source

Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders. [PDF]

Neurol Clin Pract
Wong KSW, Sen A, Michell-Sodhi J, Moat D, McCallum M, Richardson M, Harris E, Mayhew AG, Guglieri M, Grover E, Diaz-Manera J, Robinson E, Elseed M, Mason J, Geagan C, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R.   +18 more
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Sleep Disordered Breathing and Its Predictors in Pediatric Muscular Dystrophies. [PDF]

J Clin Med
Abu Zahra M, Arens R, Essibayi MA, Patel N.   +3 more
europepmc   +1 more source

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. [PDF]

Neurology
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J.   +12 more
europepmc   +1 more source

LEM-Domain-Containing Inner Nuclear Membrane Proteins: Emerging Regulators of Intranuclear Signaling. [PDF]

Int J Mol Sci
Lee B, Lee H, Shim J.
europepmc   +1 more source

Characterization of Nesprin-1 function at the nuclear envelope [PDF]

, 2009
Taranum, Surayya
core  

Females with X-Linked Muscle Disorders: an underestimated patient population. [PDF]

Acta Myol
Politano L.
europepmc   +1 more source