Results 171 to 180 of about 35,591 (238)

Atypical manifestation of late onset limb girdle muscular dystrophy presenting with recurrent falling and shoulder dysfunction: a case report [PDF]

, 2008

core   +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

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

Zebrafish Models of LAMA2-Related Congenital Muscular Dystrophy (MDC1A). [PDF]

Front Mol Neurosci, 2020
Fabian L, Dowling JJ.
europepmc   +1 more source

Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice. [PDF]

Stem Cell Res Ther
Yokomizo-Goto M, Takenaka-Ninagawa N, Zhao C, Bourgeois Yoshioka CK, Miki M, Motoike S, Inada Y, Zujur D, Theoputra W, Jin Y, Toguchida J, Ikeya M, Sakurai H.   +12 more
europepmc   +1 more source

Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]

, 2017
Bamaga, Ahmed K., Weihl, Conrad C.
core   +2 more sources

Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy. [PDF]

Pediatr Pulmonol, 2020
Sawnani H, Mayer OH, Modi AC, Pascoe JE, McConnell K, McDonough JM, Rutkowski AM, Hossain MM, Szczesniak R, Tadesse DG, Schuler CL, Amin R.   +11 more
europepmc   +1 more source