Results 121 to 130 of about 20,235 (200)

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report. [PDF]

Acta Myol, 2022
Picillo E, Torella A, Passamano L, Nigro V, Politano L.   +4 more
europepmc   +1 more source

Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial. [PDF]

Neuropsychopharmacol Rep
Murakami T, Sato T, Ishizuka T, Nakamura H, Tachimori H, Harada H, Oi H, Hatano K, Oba MS, Ishiguro K, Shichiji M, Kihara Y, Takeshima Y, Taniguchi-Ikeda M, Hattori A, Shimizu-Motohashi Y, Awano H, Bo R, Nagata S, Ishigaki K.   +19 more
europepmc   +1 more source

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy. [PDF]

Int J Environ Res Public Health, 2022
Sabatelli P, Merlini L, Di Martino A, Cenni V, Faldini C.   +4 more
europepmc   +1 more source

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India. [PDF]

Ann Indian Acad Neurol
Gowda VK, Srinivasan VM, Krishnanada V, Sathyakumar R, Mahadevan A.   +4 more
europepmc   +1 more source

Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports. [PDF]

World J Clin Cases, 2022
Wu WJ, Sun SZ, Li BG.
europepmc   +1 more source

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