Results 31 to 40 of about 2,143,667 (228)

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Frontiers in Neurology, 2021
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri   +17 more
doaj   +1 more source

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Acta Neuropathologica Communications, 2019
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed ...
Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma Beatriz Romero   +17 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Congenital myopathies: The current status

Indian Journal of Pathology and Microbiology, 2022
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel, Carsten Dittmayer, Werner Stenzel   +2 more
doaj   +1 more source

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods. [PDF]

Neuropathol Appl Neurobiol
ABSTRACT Aims Actinopathies are myopathies associated with pathogenic variants in ACTA1 , a gene encoding the skeletal alpha‐actin protein.
Caramizaru A, Onnée M, Nikitin S, Dobrescu A, Severa G, Murtazina A, Urtizberea A, Lefaucheur JP, Carlier RY, Metay C, Malfatti E.   +10 more
europepmc   +3 more sources

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +2 more sources

Congenital Myopathy with Apoptotic Changes

Pediatric Neurology Briefs, 2000
A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source

Phenotype standardization for statin-induced myotoxicity. [PDF]

, 2014
Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis.
Fahy, J., Neely, D, Fahy, J, Wadelius, M, Palmer, CN, Carr, D. F., Maitland-van Der Zee, AH, Laaksonen, R, Maitland-van Der Zee, A. H., Wadelius, M., Yue, QY, Chinoy, H.; id_orcid, Psaty, BM, Bloch, K. M., Cooper, R. G., Neely, D., Psaty, B. M., Chinoy, H., Pirmohamed, M., Chinoy, H, Palmer, C. N. A., Voora, D, Palmer, C. N. A.; id_orcid, Voora, D., Armitage, J., Wadelius, Mia,, Yue, Q. Y., Alfirevic, A., Alfirevic, A, Armitage, J, Palmer, C. N A, Pirmohamed, M, Palmer, PN, Hanson, A., Bloch, KM, Laaksonen, R., Cooper, RG, Yue, Q-Y, Wadelius, Mia, Carr, DF, Hanson, A   +40 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Element 5 List of Courses Core General Education Assessment, 2021-2022

, 2022
The List of Courses for Element 5 - Social Science as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +2 more sources