Results 71 to 80 of about 7,553,951 (168)

Gait characteristics in a canine model of X-linked myotubular myopathy [PDF]

Journal of the Neurological Sciences, 2014
X-linked myotubular myopathy (XLMTM) is a fatal pediatric disease where affected boys display profound weakness of the skeletal muscles. Possible therapies are under development but robust outcome measures in animal models are required for effective translation to human patients.
Melissa A. Goddard, Emily Burlingame, Alan H. Beggs, Anna Buj-Bello, Martin K. Childers, Anthony P. Marsh, Valerie E. Kelly   +6 more
openaire   +2 more sources

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

European Journal of Neurology, Volume 32, Issue 4, April 2025.
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin   +10 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

Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]

Annals of Child Neurology, 2022
Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae   +10 more
doaj   +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

Adeno‐associated viral vector gene therapy: Challenges for the paediatric hepatologist

Journal of Pediatric Gastroenterology and Nutrition, Volume 79, Issue 3, Page 485-494, September 2024.
Abstract Hepatoxicity associated with recombinant adeno‐associated virus gene therapy is being increasingly encountered by hepatologists in tertiary and quaternary referral units due to the recent increase of these therapies for neuromuscular and haematological disorders.
Barath Jagadisan, Anil Dhawan
wiley   +1 more source

X-linked myotubular myopathy: an untreated treatable disease

Expert Opinion on Biological Therapy
X-linked myotubular myopathy (XLMTM) is a life-threatening congenital disorder characterized by severe respiratory and motor impairment. This disease presents significant therapeutic challenges, with various strategies being explored to address its underlying pathology.
Martin, Cristina, Servais, Laurent
openaire   +3 more sources

Current developments of gene therapy in human diseases

MedComm, Volume 5, Issue 9, September 2024.
Gene therapy has seen remarkable advancements in recent decades, demonstrating its immense potential in treating a wide range of genetic and acquired diseases. Several AAV gene therapy products have been introduced to the market, addressing various conditions.
Fanfei Liu, Ruiting Li, Zilin Zhu, Yang Yang, Fang Lu   +4 more
wiley   +1 more source

ePosters Virtual

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

Population‐based prevalence of congenital defects in a routine sentinel site‐based surveillance system in the Western Cape, South Africa

Birth Defects Research, Volume 116, Issue 8, August 2024.
Abstract Background Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures. Methods We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and ...
Emma Kalk, Alexa Heekes, Diane Lavies, Lizel Jacobs, Careni Spencer, Alison Boutall, Ayesha Osman, Chantal Stewart, Mary‐Ann Davies, Anika van Niekerk, Karen Fieggen, Andrew Boulle, Ushma Mehta   +12 more
wiley   +1 more source