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A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

artículo científico publicado en 2017

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

artículo científico publicado en 2018

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

artículo científico publicado en 2017

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

artículo científico publicado en 2017

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

artículo científico publicado en 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

artículo científico publicado en 2018

Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.

artículo científico publicado en 2015

Increased serum miR-193a-5p during non-alcoholic fatty liver disease progression: Diagnostic and mechanistic relevance

artículo científico publicado en 2021

Limb girdle muscular dystrophy due to mutations in POMT2.

artículo científico publicado en 2017

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in

artículo científico publicado en 2019

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

artículo científico publicado en 2020

Therapeutic Potential of Shark Anti-ICOSL VNAR Domains is Exemplified in a Murine Model of Autoimmune Non-Infectious Uveitis

artículo científico publicado en 2017

Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis

scientific article published on 01 December 2020

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