Results 131 to 140 of about 260,514 (183)

Walsh & Hoyt: Relationship Among the Different Congenital Myopathies

, 2005
It is clear that individual patients may show structural alterations of muscle fibers that are ""characteristic"" of more than one type of congenital myopathy.
Paul H. Phillips, MD
core  

From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies. [PDF]

Int J Mol Sci, 2020
Sztretye M, Szabó L, Dobrosi N, Fodor J, Szentesi P, Almássy J, Magyar ZÉ, Dienes B, Csernoch L.   +8 more
europepmc   +1 more source

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes. [PDF]

Front Med (Lausanne)
Rinella S, Anastasio G, Sapuppo A, Bianco ML, Leonardi R, Pavone P, Ruggieri M, Polizzi A.   +7 more
europepmc   +1 more source

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies. [PDF]

BMJ Open
van de Camp SAJH, Brenninkmeijer R, van Doorn JLM, de Laat ECM, Pomp L, Stinissen L, Cameron D, Groothuis JT, van Alfen N, Jungbluth H, Erasmus CE, Bartels B, Wadman RI, Voet NBM, van der Pol WL, Voermans NC.   +15 more
europepmc   +1 more source

Congenital Myopathies: A Clinicopathological Study of 10 Cases in a Tertiary Care Hospital of North India.

J Pediatr Neurosci, 2021
Maheshwari S, Pant I, Bala K, Paradasani V.   +3 more
europepmc   +1 more source

Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western Sweden. [PDF]

Ann Neurol
Michael E, Hedberg-Oldfors C, Tulinius M, Nordström S, Oldfors A, Darin N.   +5 more
europepmc   +1 more source

New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies. [PDF]

Mol Syndromol, 2020
Zecevic N, Arsenijevic V, Manolakos E, Papoulidis I, Theocharis G, Sartsidis A, Tsagas T, Tziotis I, Dagklis T, Kalogeros G, Tsakiridis I, Filipovic Stankovic M, Eleftheriades M.   +12 more
europepmc   +1 more source

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period. [PDF]

Neurol Genet
Cicala G, Mccauley J, Phadke R, Mueller J, Robb SA, Manzur AY, Munot P, Baranello G, Scoto M, Tedesco FS, Mein RA, Walsh C, Muntoni F, Sarkozy A.   +13 more
europepmc   +1 more source

Genetic and Structural Variations in Czech Patients With Congenital Myopathies. [PDF]

Clin Genet
Zídková J, Lauerová B, Mensová L, Kramářová T, Kopčilová J, Réblová K, Soukup Vodičková M, Hujňáková M, Haberlová J, Rohlenová M, Mazanec R, Šoukalová J, Gaillyová R, Vyhnálková E, Balaščaková M, Danhofer P, Juříková L, Grečmalová D, Gřegořová A, Plevová P, Langová M, Honzík T, Magner M, Klincová M, Solařová P, Šenkeříková M, Fajkusová L.   +26 more
europepmc   +1 more source

The inflammatory myopathies

, 2013
The inflammatory myopathies are a group of rare conditions that usually present in general practice as a patient with muscle weakness and/or an elevated serum creatine kinase (CK) level.
De Jager, JP
core