Results 71 to 80 of about 2,741 (208)

The spectrum of congenital myopathies in Romania – a pathological retrospective study [PDF]

Romanian Journal of Neurology, 2015
Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and ...
Alexandra Eugenia Bastian, Vlad Mageriu, Emilia Manole   +2 more
doaj   +1 more source

Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]

, 2014
Peer ...
Bellance, Remi, Böhm, Johann, De Winter, Josine M., Estournet, Brigitte, Eymard, Bruno, Fardeau, Michel, Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Lubieniecki, Fabiana, Madelaine, Angéline, Malfatti, Edoardo, Monges, Soledad, Ottenheijm, Coen AC, Pelin, Katarina, Quijano-Roy, Susana, Romero, Norma B., Schäffer, Ursula, Taratuto, Ana Lía, Viou, Mai Thao, Wallgren-Pettersson, Carina, Wu, Bin   +20 more
core   +4 more sources

Adeno‐Associated Virus 8 and 9 Myofibre Type/Size Tropism Profiling Reveals Therapeutic Effect of Microdystrophin in Canines

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 1, February 2025.
ABSTRACT Background Adeno‐associated virus (AAV) 8 and 9 are in clinical trials for treating neuromuscular diseases such as Duchenne muscular dystrophy (DMD). Muscle consists of myofibres of different types and sizes. However, little is known about the fibre type and fibre size tropism of AAV in large mammals.
Matthew J. Burke, Braiden M. Blatt, James A. Teixeira, Dennis O. Pérez‐López, Yongping Yue, Xiufang Pan, Chady H. Hakim, Gang Yao, Roland W. Herzog, Dongsheng Duan   +9 more
wiley   +1 more source

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [PDF]

, 2011
International audienceAIMS: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine ...
Bevilacqua, J. A., Bitoun, Marcus, Claeys, Kristin,, Eymard, Bruno, Fardeau, Michel, Ferreiro, Ana, Guicheney, Pascale, Laquerrière, Annie, Lubieniecki, Fabiana, Lunardi, Joël, Marty, Isabelle, Monges, Soledad, Monnier, Nicole, Romero, Norma,, Taratuto, Ana,   +14 more
core   +4 more sources

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial [PDF]

, 2023
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. No therapies are approved for this disease.
Alfano, Lindsay N, Beggs, Alan H, Blaschek, Astrid, Buj-Bello, Ana, Bönnemann, Carsten G, Childers, Martin K, Coats, Julie, Dowling, James J, Duong, Tina, Foley, A Reghan, Graham, Robert J, Han, Cong, Jain, Minal, James, Emma S, Kuntz, Nancy L, Lawlor, Michael W, Lee, Jun, MacBean, Vicky, Mavilio, Fulvio, Miller, Weston, Muntoni, Francesco, Murtagh, Michael, Müller-Felber, Wolfgang, Neuhaus, Sarah, Noursalehi, Mojtaba, Prasad, Suyash, Rico, Salvador, Saade, Dimah N, Seferian, Andreea M, Servais, Laurent, Shieh, Perry B, Smith, Barbara K, Varfaj, Fatbardha   +32 more
core  

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Pathogenic mechanisms in centronuclear myopathies

Frontiers in Aging Neuroscience, 2014
Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature.
Heinz eJungbluth, Mathias eGautel
doaj   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +1 more source

Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in CTBP1 Identified via Whole Genome Sequencing

Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.
We describe a three‐year‐old girl with an unusual c‐terminal binding protein 1 (CTBP1) gene variant. She presented with features of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS), following numerous chest infections, poor weight gain and delayed motor development during the early years.
Silvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, Robert Spaull, Ala Fadilah, Kathreena Kurian, Kayal Vijayakumar, Sarah Smithson, Anirban Majumdar, Vjekoslav Krzelj   +9 more
wiley   +1 more source