Results 81 to 90 of about 32,083 (123)

Broadening the paradigm of laminin α2-related muscular dystrophy: A case of partial merosin deficiency with compound heterozygous variants. [PDF]

SAGE Open Med Case Rep
Tavasoli A, Eghdami S, Kachuei M, Rouzbeh S.   +3 more
europepmc   +1 more source

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients. [PDF]

Acta Neuropathol Commun
Pini V, Catapano F, Bonaccorso R, Weisburd B, Previtali SC, Muntoni F.   +5 more
europepmc   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

The Prevalence of Sleep-Disordered Breathing in Children With Neuromuscular Diseases. [PDF]

Cureus
Al-Naimi AR, Toma HM, Ibrahim K, Abushahin M, Abushahin A.   +4 more
europepmc   +1 more source

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants. [PDF]

Ital J Pediatr
Noureldeen MM, Zaki MS, Rafat K, Abdel-Hamid MS, Salem AMS.   +4 more
europepmc   +1 more source

LLM-Assisted Reanalysis of Unsolved Rare Disease Genomes Increases Diagnostic Yield. [PDF]

NEJM AI
Jaech A, Cheatham M, Shringarpure SS, Genetti CA, Pradhan P, Bagul A, Panch T, Rader B, Sewalk K, Distler R, Anderson KN, Stewart M, Lejfer S, Glahn DC, Goldstein RD, Wojcik M, Beggs AH, Brownstein JS, Brownstein CA.   +18 more
europepmc   +1 more source

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

An international retrospective early natural history study of LAMA2-related dystrophies. [PDF]

J Neuromuscul Dis
Hinkley L, Orbach R, Park J, Alvarez R, Dziewczapolski G, Bönnemann CG, Foley AR.   +6 more
europepmc   +1 more source

Identification of LAMA2 compound heterozygous variants: a case report. [PDF]

Transl Pediatr
Ying Y, Ye J, Shen J, Chen G, Jiang K.
europepmc   +1 more source

An Extremely Rare LAMA2 Gene Variant c.442C>T (p.Arg148Trp) Causing Late-Onset LAMA2-Related Dystrophy. [PDF]

Cureus
Saluja A, Ghotekar LH, Anees S, Haque A, Dhamija RK.   +4 more
europepmc   +1 more source