Results 271 to 280 of about 321,114 (362)

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies. [PDF]

Int J Mol Sci, 2023
Sandonà M, Cavioli G, Renzini A, Cedola A, Gigli G, Coletti D, McKinsey TA, Moresi V, Saccone V.   +8 more
europepmc   +1 more source

Development of an immunoprecipitation assay for detecting anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase autoantibodies using a non‐radioactive biotinylated recombinant protein

Clinical and Experimental Neuroimmunology, EarlyView.
Principle and performance of an immunoprecipitation assay for detecting anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase (HMGCR) autoantibodies using a non‐radioactive biotinylated recombinant protein. This new assay can serve as a potential alternative to the gold standard immunoprecipitation assay for detecting anti‐anti‐3‐hydroxy‐3 ...
Yukihiro Nishikawa, Kimiko Hasegawa, Hiroki Abe, Shun Matsuzawa, Takuya Isayama, Ran Nakashima, Yoshihiko Saito, Ichizo Nishino, Masataka Kuwana   +8 more
wiley   +1 more source

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. [PDF]

Sci Rep
Ozisik O, Gorokhova S, Cerino M, Bartoli M, Baudot A.   +4 more
europepmc   +2 more sources

Production of Muscular Dystrophy in Pigs by Feeding Cottonseed Oil [PDF]

, 1961
Paul Lindberg, K. Orstadius
openalex   +1 more source

On RNA-programmable gene modulation as a versatile set of principles targeting muscular dystrophies. [PDF]

Mol Ther
Capelletti S, García Soto SC, Gonçalves MAFV.   +2 more
europepmc   +1 more source

Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories. [PDF]

Neurol Genet, 2023
Muni-Lofra R, Juanola-Mayos E, Schiava M, Moat D, Elseed M, Michel-Sodhi J, Harris E, McCallum M, Moore U, Richardson M, Trainor C, Wong K, Malinova M, Bolano-Diaz C, Keogh MJ, Ghimenton E, Verdu-Diaz J, Mayhew A, Guglieri M, Straub V, James MK, Marini-Bettolo C, Diaz-Manera J.   +22 more
europepmc   +1 more source

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries

Clinical Genetics, EarlyView.
NEUROMYODredger‐3billion Megaproject was created to provide a genetic diagnosis for 245 children and adults with neurologic disorders in seven countries for free. With whole exome sequencing on a single patient, we could end the diagnostic odyssey in around 30% of cases.
Edoardo Malfatti, Alexandru Caramizaru, Hane Lee, JiHye Kim, Hussein Shoaito, Alessandra Pennisi, Sarah Souvannanorath, François‐Jérôme Authier, Andreea Dumitrescu, Nagia Fahmy, Rosa Elena Escobar‐Cedillo, Antonio Miranda‐Duarte, Alexandra Berenice Luna‐Angulo, Sonia Nouioua, Ouissem Benchaabi, Meriem Tazir, Sihem Hallal, Peggy Martinez, Claudia Castiglioni, Amelia Dobrescu, Homa Tajsharghi   +20 more
wiley   +1 more source

Cardiac and Pulmonary Complications in Duchenne's Progressive Muscular Dystrophy [PDF]

, 1963
John Gilroy, JOSEPH L. CAHALAN, Robert F. Berman, M Newman   +3 more
openalex   +1 more source

Correction to: Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies. [PDF]

J Muscle Res Cell Motil
Rajasingham T, Rodriguez HM, Betz A, Sproule DM, Sinha U.   +4 more
europepmc   +1 more source