Results 41 to 50 of about 1,662 (201)

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice

, 2021
Nemaline myopathy, a disease of the actin-based thin filament, is one of the most frequent congenital myopathies. To date, no specific therapy is available to treat muscle weakness in nemaline myopathy.
Minardi E., Rossi M., De Winter J. M., Borsboom T., Gondin J., Ottenheijm C. A. C., Malik F. I., Bottinelli R., Beggs A. H., Brocca L., Hwee D. T., Bernard M., Gineste C., Bendahan D., Pellegrino M. A.   +14 more
core   +2 more sources

Coexistence of central nucleus, cores, and rods: Diagnostic relevance

Annals of Indian Academy of Neurology, 2016
Background: Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. Objective: A retrospective reassessment of cases diagnosed as CMs
Sathiyabama Dhinakaran, Rashmi Santhosh Kumar, Ravindra Thakkar, Gayathri Narayanappa   +3 more
doaj   +1 more source

Rare nemaline myopathy (a case report)

Гений oртопедии, 2022
Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin, Galina N. Filimonova, Oksana G. Prudnikova, Igor N. Mezentsev   +3 more
doaj   +1 more source

HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2023
Background Sporadic late onset nemaline myopathy (SLONM) is a muscle disorder characterized by the presence of nemaline rods in muscle fibers.
Eiji Matsuura, Satoshi Nozuma, Ayano Shigehisa, Mika Dozono, Tomonori Nakamura, Masakazu Tanaka, Ryuji Kubota, Akihiro Hashiguchi, Hiroshi Takashima   +8 more
doaj   +1 more source

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A

European Journal of Translational Myology, 2023
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo   +13 more
doaj   +1 more source

Image_3_Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy.JPEG

, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Laura Yapor (14064897), Arundhati Dileep (14064894), Ravish Singhal (14064900), Diana Maria Ronderos-Botero (14064891)   +3 more
core   +1 more source

Table_1_Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy.DOCX

, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Laura Yapor (14064897), Arundhati Dileep (14064894), Ravish Singhal (14064900), Diana Maria Ronderos-Botero (14064891)   +3 more
core   +1 more source

Image_1_Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy.JPEG

, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Laura Yapor (14064897), Arundhati Dileep (14064894), Ravish Singhal (14064900), Diana Maria Ronderos-Botero (14064891)   +3 more
core   +1 more source

In Memoriam: W. King Engel, MD (1930–2025) [PDF]

Ann Neurol
Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Dalakas M, Ringel S.
europepmc   +2 more sources

Image_2_Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy.JPEG

, 2022
The heart and lung are in continuous reciprocal interaction that creates a functional and anatomical reserve referred to as cardiopulmonary coupling (CPC).
Laura Yapor (14064897), Arundhati Dileep (14064894), Ravish Singhal (14064900), Diana Maria Ronderos-Botero (14064891)   +3 more
core   +1 more source