Results 131 to 140 of about 20,235 (200)

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family. [PDF]

Mol Genet Genomic Med
Maiga AB, Pamanta I, Bamba S, Cissé L, Diarra S, Touré S, Yalcouyé A, Diallo S, Diallo S, Kané F, Diallo SH, Ba HO, Guinto CO, Fischbeck K, Landoure G, Cissé IA, H3Africa Consortium.   +16 more
europepmc   +1 more source

Urinary prostaglandin D₂ and E₂ metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. [PDF]

Sci Rep
Ishigaki K, Takeuchi A, Taniguchi-Ikeda M, Sato T, Murakami T, Shichiji M, Ishiguro K, Kihara Y, Nagata S, Urade Y.   +9 more
europepmc   +1 more source

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family. [PDF]

Matern Fetal Med
Zhou J, Xiong H, Yang J, Fu X, Sun L.
europepmc   +1 more source

A difficult airway approach in a merosin-deficient congenital muscular dystrophy patient: a case report. [PDF]

Braz J Anesthesiol, 2023
Pelicano Paulos J, Artilheiro V, Cruz C, Carneiro AP.   +3 more
europepmc   +1 more source

Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy: A Case Report. [PDF]

Neurol Genet
Arroyo MS, Fuller C, Schorry EK, Ulm E, Tian C.   +4 more
europepmc   +1 more source

Widening the spectrum of LAMA 2 congenital muscular dystrophy (MDC1A): cobblestone malformation. [PDF]

Arq Neuropsiquiatr, 2022
Borella LFM, Pereira FV, Mimura PMP, Duarte JÁ, Villarinho LL, Rezende T, França Junior MC, Reis F.   +7 more
europepmc   +1 more source

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts. [PDF]

Biomolecules
Benati D, Cattin E, Corradi F, Ferrari T, Pedrazzoli E, Patrizi C, Marchionni M, Bertorelli R, De Sanctis V, Merlini L, Ferlini A, Sabatelli P, Gualandi F, Recchia A.   +13 more
europepmc   +1 more source

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy. [PDF]

Mol Syndromol
İpek R, Çavdartepe BE, Bozdoğan ST, Yiş U.   +3 more
europepmc   +1 more source

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy. [PDF]

Cells
Cenni V, Sabatelli P, Di Martino A, Merlini L, Antoniel M, Squarzoni S, Neri S, Santi S, Metti S, Bonaldo P, Faldini C.   +10 more
europepmc   +1 more source

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). [PDF]

J Neuropathol Exp Neurol, 2020
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA.   +12 more
europepmc   +1 more source