Results 71 to 80 of about 27,107 (181)

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

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

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

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +2 more sources

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

X-linked recessive myotubular myopathy proven by muscle biopsy

, 2009
[[abstract]]We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress.
Chang-Hai Tsai;Wei-Shih Huang;Fuu-Jen Tsai;Cheng-Chun Lee;Chen SS
core  

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

Disease Models & Mechanisms, 2012
SUMMARY Myotubular myopathy (MTM) is a severe congenital muscle disease characterized by profound weakness, early respiratory failure and premature lethality. MTM is defined by muscle biopsy findings that include centralized nuclei and disorganization of
James J. Dowling, Romain Joubert, Sean E. Low, Ashley N. Durban, Nadia Messaddeq, Xingli Li, Ashley N. Dulin-Smith, Andrew D. Snyder, Morgan L. Marshall, Jordan T. Marshall, Alan H. Beggs, Anna Buj-Bello, Christopher R. Pierson   +12 more
doaj   +1 more source

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy [PDF]

, 2014
Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature.
Daniele, N., Grange, Robert, Williams, J. Koudy, Rivière, Christel, Beggs, Alan H., Beggs, Alan,, Lawlor, Michael W., Beggs, Alan, Barber, Jane, Williams, J Koudy, Childers, Martin K., Furth, Mark E., Mack, David, Mack, David L., Doering, Jonathan, Furth, Mark, Joubert, Romain, Poulard, Karine, Mitchell, Erin, Masurier, Carole, MAVILIO, Fulvio, Rider, Branden E., Guan, Xuan, Moal, Christel, Jamet, Thibaud, Van Wittenberghe, Laetitia, Moal, Christelle, Danièle, Nathalie, Goddard, Melissa, Buj Bello, Anna, Buj-Bello, Anna, Moullier, Philippe, Rider, Branden, Beggs, Alan, H., Doering, Jonathan A., Childers, Martin, Hammer, Caroline, Grange, Robert W., Vignaud, Alban, Lawlor, Michael, Martin, Samia, Soker, Thomas, Lockard, Mandy   +42 more
core   +1 more source

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset Miopatia centronuclear: aspectos histopatológicos em dez pacientes com a forma clínica de início na infância

Arquivos de Neuro-Psiquiatria, 1998
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset.
EDMAR ZANOTELI, ACARY SOUZA BULLE OLIVEIRA, BEATRIZ HITOMI KIYOMOTO, BENY SCHMIDT, ALBERTO ALAIN GABBAI   +4 more
doaj   +1 more source

X-linked myotubular myopathy in a family of two infant siblings: A case report and review

Pediatrics and Neonatology
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation.
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora   +2 more
doaj   +1 more source