Results 71 to 80 of about 38,417 (217)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Congenital Monomelic Hypertrophy With Progressive Myopathy

, 1991
• We describe a patient with congenital monomelic hypertrophy who later developed progressive footdrop due to a degenerative myopathy. The clinical, electrophysiologic, and pathologic features of the case are described and compared with those of a ...
W. W. Pendlebury, Hall, Colin D, A. Shukla, Pendlebury, William W, Bradley, Walter G, Shukla, Amitabh, C. D. Hall, W. G. Bradley   +7 more
core   +1 more source

Clinical and Pathological Features of Flexural Deformities Associated with Myopathies in Foals

Veterinary Sciences
Flexural deformities (FDs) are a common condition in foals. Therapy is typically initiated without a precise diagnosis, and the etiopathogenesis often remains unknown.
Maria Pia Pasolini, Luigi Auletta, Davide De Biase, Emanuela Vaccaro, Chiara Del Prete, Chiara Montano, Mariaelena de Chiara, Evaristo Di Napoli, Orlando Paciello, Giuseppe Piegari   +9 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A clinical, histological and molecular study of nemaline congenital myopathy and congenital myopathy with minimal changes

, 2016
Introdução: As miopatias congênitas são doenças musculares genéticas caracterizadas por hipotonia e fraqueza muscular de início precoce na infância. Histologicamente são caracterizadas por alterações estruturais no músculo esquelético (corpos nemalínicos,
Moreno, Cristiane de Araujo Martins
core   +1 more source

Nanopore direct RNA sequencing and the epitranscriptome: Advances in mapping native RNA landscapes

iMeta, EarlyView.
Nanopore direct RNA sequencing advances transcriptomics by capturing full‐length transcripts and multiple RNA modifications; this review details its principles, workflows, tools, applications, challenges, and future research potential. Abstract Nanopore direct RNA sequencing (DRS) has transformed transcriptomics by enabling single‐molecule, long‐read ...
Tianyuan Zhang, Jia Li, Chao Tang, You Wu, Hao Wu, Xi‐Tong Zhu, Ziyang Luo, Hang Qin, Lishan Ding, Yu Zeng, Shiou Yih Lee, Xiaotao Shen, Shiwen Gao, Zhaoyang Tian, Qian Tang, Mian Li, Muhammad Tahir Ul Qamar, Yang Dong, Komivi Dossa, Yaxuan Zhang, Hu Chen, Sanqi An, Xiang Yu, Lu Chen, Dingjie Wang, Shengli Li, Ling‐Ling Chen, Yanqiang Li   +27 more
wiley   +1 more source

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. [PDF]

Acta Neuropathol Commun, 2020
Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia in the 1960s and 1970s.
Clayton JS, McNamara EL, Goullee H, Conijn S, Muthsam K, Musk GC, Coote D, Kijas J, Testa AC, Taylor RL, O'Hara AJ, Groth D, Ottenheijm C, Ravenscroft G, Laing NG, Nowak KJ.   +15 more
europepmc   +2 more sources

European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) position paper on screening, diagnosis and investigation of paediatric metabolic dysfunction‐associated steatotic liver disease

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is the most common reason for elevated liver enzymes in children in Europe, affecting more than 5% of all children. Since the last iteration of this position paper, there have been substantial advances in our understanding of the disease.
Jake P. Mann, Sander Lefere, Maarten Buytaert, Anna Alisi, Cigdem Arikan, Jernej Brecelj, Rachel M. Brown, Irene Degrassi, Giulia Fiore, Emer Fitzpatrick, Sven Francque, Christian A. Hudert, Wojciech Janczyk, Lauren Johansen, Bart G. Koot, Anastasia Konidari, Eberhard Lurz, Claudia Mandato, Maria Mercadal‐Hally, Hadar Moran‐Lev, Antonella Mosca, Giusy Ranucci, Maria Rogalidou, Penelope C. Rose, Piotr Socha, Pietro Vajro, Elvira Verduci, Anita C. E. Vreugdenhil, Natalia Zavhorodnia, Aglaia Zellos, Ruth De Bruyne   +30 more
wiley   +1 more source

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core  

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy

Disease Models & Mechanisms, 2015
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian, Sheng Ding, Yun You, Tong-ruei Li, Yan Liu, Xiaohui Wu, Ling Sun, Tian Xu   +7 more
doaj   +1 more source