Results 131 to 140 of about 7,022 (221)

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype [PDF]

, 2015
Hsiang-Hung Shih, Ichizo Nishino, Megumu Ogawa, Michael Sacher, Satomi Mitsuhashi, Satoru Noguchi, Wen-Chen Liang, Wenhua Zhu, Yuh-Jyh Jong   +8 more
core   +1 more source

Trigger-Free Neuraxial Anaesthesia for Emergency Evacuation of Retained Products of Conception in Limb-Girdle Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Cureus
AlAamer R, Alanzi A, Alatefi D, Alselaiti AA.   +3 more
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. [PDF]

Eur J Neurol
Demicheli E, Zamora A, Sánchez N, Colistro V, Vicente B, Salazar E, Chiesa M, Santos A, Benvenuto F, Sans M, Vázquez MC.   +10 more
europepmc   +1 more source

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases [PDF]

, 2013

core   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy. [PDF]

Hum Genomics
Tlili A, Al Mutery A.
europepmc   +1 more source

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network [PDF]

, 2016
Akemi Tamaura, En Kimura, Eri Takeshita, Harumasa Nakamura, Hirofumi Komaki, Katsuhisa Ogata, Maki Ohata, Reiko Shimizu, Shin’ichi Takeda   +8 more
core   +1 more source