Results 71 to 80 of about 2,278 (204)

Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf [PDF]

, 2020
application/pdfHistopathological examination was performed on skeletal and diaphragmatic muscles from an 8-month-old male crossbred calf showing abnormal gait and tremor of the hindlimbs.
1000060238665, 1258, 23, 2410, 60238665, 6482, 6483, 6484, 6485, 6486, Furuoka, Hidefumi, Ide, Mitugu, Ishihara, Kousuke, Kamio, Kyouhei, Kato, Satomi, read0167488, Sekiya, Akio, Shimanuki, Ikuya, Takahashi, Yoshiko, 古岡, 秀文   +19 more
core   +1 more source

Dystonia Scales for Children: Challenges and Obstacles in DBS Practice

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 795-799, March 2026.
Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel, Carolina Gorodetsky, Laura Cif, Nardo Nardocci, Alfonso Fasano   +4 more
wiley   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard, Bertini, Enrico, Brockington, Martin, Brown, Susan, Bushby, Kate, D'Amico, Adele, Feng, Lucy, Jungbluth, Heinz, Kinali, Maria, Manzur, Adnan, Messina, Sonia, Muntoni, Francesco, Müller, Clemens R., Quinlivan, Ros, Robb, Stephanie, Roper, Helen, Rose, Michael R., Sewry, Caroline A., Straub, Volker, Swash, Michael, Treves, Susan, Zhou, Haiyan   +21 more
core  

Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]

, 2018
OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M, Bortolotti, CA, Forrest, A, Goullée, H, Haliloglu, G, Kaya, U, Laing, NG, Lambrughi, M, Manzur, A, Muntoni, F, Ong, R, Osborn, DP, Phadke, R, Pignataro, M, Ravenscroft, G, Sewry, CA, Talim, B, UK10K Consortium, Whyte, T, Zaharieva, I   +19 more
core   +1 more source

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores [PDF]

, 2020
ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion.
Antonini G., Bertini E. S., Bucci E., Fattori F., Fionda L., Garibaldi M., Leonardi L., Merlonghi G., Micaloni A., Morino S., Ottenheijm C., Pennisi E. M., Raffa S., Salvetti M., Stoppacciaro A., Tartaglione T., Uijterwijk B., Vanoli F., Zierikzee M.   +18 more
core   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Frontiers in Neurology
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti   +17 more
doaj   +1 more source

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study

Orphanet Journal of Rare Diseases, 2023
Background Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders.
Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Sinikka Hiekkala   +5 more
doaj   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Flexible intramedullary nailing for distal femoral fractures in patients with myopathies

Journal of Children's Orthopaedics, 2012
Purpose Distal femoral fractures are quite common in nonambulating patients with myopathies, as they present marked osteoporosis. The deterioration of preexisting knee flexion contracture is a known problem, as these fractures are usually angulated ...
Hanspeter Huber, Guillaume André, Francine Rumeau, Pierre Journeau, Thierry Haumont, Pierre Lascombes   +5 more
doaj   +1 more source