Results 131 to 140 of about 21,194 (199)

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence. [PDF]

Cureus
Haque AF, Patel V, Bradford V.
europepmc   +1 more source

An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy. [PDF]

Ann Indian Acad Neurol, 2021
Gupta P, Anne RP, Deshabhotla SK, Nerakh G.   +3 more
europepmc   +1 more source

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus. [PDF]

Radiol Case Rep
Aref F, Shaaban A, Ahmed A, Gubari M, Hassan J, Alharbi M, Alsubhi K, Alsalhi K, Albalawi S, Ali M, Ali H, Filfilan N, Shmailah E, Ahmed A.   +13 more
europepmc   +1 more source

International retrospective natural history study of LMNA-related congenital muscular dystrophy. [PDF]

Brain Commun, 2021
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G.   +43 more
europepmc   +1 more source

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

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

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