Results 221 to 230 of about 19,684 (296)

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Epilepsy in Duchenne and Becker muscular dystrophies. [PDF]

Ann Clin Transl Neurol
Armijo Gómez JA, Fernandez-Garcia MA, Camacho A, Liz M, Ortez C, Lafuente-Hidalgo M, Toledo Bravo-de Laguna L, Estévez-Arias B, Carrera-García L, Expósito-Escudero J, Domínguez-Carral J, Nascimento A, Natera-de Benito D.   +12 more
europepmc   +1 more source

Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Incorporating patient preferences into drug development is crucial, particularly, for rare diseases with significant unmet needs. This study used Best‐Worst Scaling type 2 (BWS‐2) to explore benefit–risk trade‐offs for patients and caregivers in two rare neuromuscular diseases (NMDs), myotonic dystrophy type 1 (DM1), and mitochondrial myopathy
Aura Cecilia Jimenez‐Moreno, Alasdair Blain, Cathy Anne Pinto, Vikas Soekhai, Jennifer Viberg Johansson, Christine Dyer, Kate Adcock, Esther W. de Bekker‐Grob, G. Ardine de Wit, Jane Newman, Gráinne S. Gorman   +10 more
wiley   +1 more source

A multi-sensor approach to improve interpretability of the 6-min walk test as an outcome in muscular dystrophies: an observational study. [PDF]

Brain Commun
Sheikh A, Claramunt-Molet M, Rudolf K, Migliorelli C, Idelsohn-Zielonka S, Miralles F, Vissing J.   +6 more
europepmc   +1 more source

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT 2‐oxyglutarate dehydrogenase (OGDH) encodes an E1 component of α‐ketoglutarate dehydrogenase complex that plays a pivotal role in the Krebs cycle. Biallelic variants in OGDH have been reported to cause an early‐onset neurodevelopmental and mitochondrial disorder.
Liedewei Van de Vondel, Gyu S. Lee, Jonathan De Winter, Satoshi Matsuzaki, Abigail Sandoval, Juan Felipe Ramirez, Alice Monticelli, Sukyeong Lee, Rita Horvath, Jan de Bleecker, Stephan Züchner, Kenneth M. Humphries, Jonathan Baets, Wan Hee Yoon   +13 more
wiley   +1 more source

Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies. [PDF]

J R Soc Interface
White T, López-Márquez A, Badosa C, Jimenez-Mallebrera C, Samitier J, Giannotti MI, Lagunas A.   +6 more
europepmc   +1 more source

Fat/Water Separation at 7 T Using a 3D Radial Sequence With Quasi‐Continuous Echo Times

Magnetic Resonance in Medicine, Volume 96, Issue 1, Page 96-108, July 2026.
ABSTRACT Purpose To achieve a reliable fat/water separation (FWS) at 7 T using a new 3D radial sequence and reconstruction workflow with quasi‐continuous TE sampling. Methods A 3D radial density‐adapted sequence with quasi‐continuous TE sampling was developed for a 7 T whole‐body MRI system.
Matthias Rohe, Katharina Tkotz, Armin M. Nagel, Stefan Sommer, Max Brockmüller, Florian Knoll, Michael Uder, Nico Egger, Frederik B. Laun, Tobias Wilferth   +9 more
wiley   +1 more source

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families. [PDF]

BMC Musculoskelet Disord
Mao B, Cai X, Lin N, Jiang Y, Hao N, Dai Y, Guo D, He D, Xue H, Chen L, He Q, Zhang M, Chen M, Huang H, Xu L.   +14 more
europepmc   +1 more source

Postural Control Deficits in Patients With Chronic Inflammatory Demyelinating Polyradiculoneuropathy Undergoing Immunomodulatory Therapy

Muscle &Nerve, Volume 74, Issue 1, Page 68-76, July 2026.
ABSTRACT Introduction/Aims Despite individuals with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) often reporting impaired balance as a main concern, there is a lack of research characterizing balance impairments or evaluating whether immunomodulatory therapy improves balance.
Heather Pudwell, Kyle J. Missen, Katie Beadon, Kristine M. Chapman, Emmanuel Ogalo, Chelsea B. Smith, Michael J. Berger, Mark G. Carpenter   +7 more
wiley   +1 more source

Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families. [PDF]

Iran Biomed J
Soltani N, Shahbazi Z, Karimipoor M, Fallah MS, Zafarghandi Motlagh F, Amini M, Jamali M, Bagherian H, Zeinali R, Zeinali S.   +9 more
europepmc   +1 more source