Results 141 to 150 of about 16,504 (255)

Identification of Two Novel Variants causing Limb-Girdle and Congenital Muscular Dystrophy

Ali mahmoudabadi
openalex   +1 more source

Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy [PDF]

, 2014
Tyler Lash, Ryan R. Kraemer
openalex   +1 more source

Autosomal recessive limb-girdle muscular dystrophy type 2Q [PDF]

, 2020
INSERM
openalex   +1 more source

Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness. [PDF]

Neurol Genet
James MK, Iammarino MA, Reash NF, Steiner CL, Knight AB, Smith MA, Moat D, Michell-Sodhi J, Wong KSW, Grover E, Robinson EJ, Mayhew AG, Eagle M, Elseed M, Guglieri M, Straub V, Marini-Bettolo C, Muni-Lofra R, Diaz-Manera J, Lowes LP, Alfano LN.   +20 more
europepmc   +1 more source

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy [PDF]

Céline Bruge, Nathalie Bourg, Emilie Pellier, Johana Tournois, Jérôme Polentes, Manon Benabidès, Noëlla Grossi, Anne Bigot, Anthony Brureau, Isabelle Richard, Xavier Nissan   +10 more
openalex   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy. [PDF]

Physiol Rep, 2023
Chen YL, Wu WB, Wang P, Yip PK, Wu YN, Lin YH, Lin WN.   +6 more
europepmc   +1 more source

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy. [PDF]

Front Neurol, 2023
Rimoldi M, Romagnoli G, Magri F, Antognozzi S, Cinnante C, Saccani E, Ciscato P, Zanotti S, Velardo D, Corti S, Comi GP, Ronchi D.   +11 more
europepmc   +1 more source

Cardiovascular magnetic resonance reveals similar damage to the heart of patients with becker and limb‐girdle muscular dystrophy but no cardiac symptoms [PDF]

, 2009
Ali Yılmaz, Hans‐Jürgen Gdynia, Heiko Mahrholdt, Udo Sechtem   +3 more
openalex   +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