Results 91 to 100 of about 12,800 (285)

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Autoantibodies Produced at the Site of Tissue Damage Provide Evidence of Humoral Autoimmunity in Inclusion Body Myositis [PDF]

, 2012
Inclusion body myositis (IBM) belongs to a group of muscle diseases known as the inflammatory myopathies. The presence of antibody-secreting plasma cells in IBM muscle implicates the humoral immune response in this disease.
Amato, Anthony A., Bradshaw, Elizabeth M., DiCapua, Daniel B., Felice, Kevin J., Goldstein, Jonathan M., Lundberg, Ingrid E., Nowak, Richard J., O’Connor, Kevin C., Ploegh, Hidde, Ray, Arundhati, Spooner, Eric, Willis, Simon N., Wu, Qian   +12 more
core   +4 more sources

Adult-onset distal myopathy due to VCP mutation [PDF]

, 2020
INSERM
openalex   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies [PDF]

, 2008
Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement ...
JL De Bleecker, S Nakano, D Selcen, M Olive, R Schroder, KG Claeys, KG Claeys, LG Goldfarb, P Vicart, D Selcen, M Vorgerd, D Selcen, D Selcen, D Selcen, T Sato, M Ohlsson, R Schroder, M Olive, KM Forrest, HM McLaughlin, KG Claeys, M Olive, J Gamez, G Vattemi, J Palmio, G Pfeffer, A Dagvadorj, D Selcen, MC Walter, RA Kley, S Sacconi, P Pruszczyk, M Olive, T Yuri, K Strach, Z Odgerel, D Hong, C Hedberg, A Ariza, AM Munoz-Marmol, G Pinol-Ripoll, X Luan, MC Dalakas, M Henderson, R Izumi, F Jaffer, P Reilich, HC Lee, T Kraya, F Hanisch, D Fischer, MP Wattjes, PR Joshi, V Dubowitz, J Weis, F Sanger, N Vasli, T Sato, K Wahbi, RA Kley, A Pilotto   +60 more
core   +5 more sources

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy [PDF]

, 2016
Peer ...
Auranen, Mari, Kiuru-Enari, Sari, Kousi, Maria, Lamminen, Antti, Lehesjoki, Anna-Elina, Löfberg, Mervi, Mahjneh, Ibrahim, Muurinen , Tiina, Paetau, Anders, Piirilä, Päivi, Salmi, Tapani, Träskelin, Ann-Liz, Ylikallio, Emil   +12 more
core   +1 more source

Steroid‐Refractory Cryptogenic Organising Pneumonia (COP) in a Patient With Mannose‐Binding Lectin (MBL) Deficiency

Respirology Case Reports, Volume 14, Issue 2, February 2026.
A 67‐year‐old man with cryptogenic organising pneumonia developed recurrent relapses despite corticosteroid and mycophenolate therapy. A complete absence of mannose‐binding lectin was identified, suggesting impaired apoptotic cell clearance as a contributor to persistent inflammation.
Ilias E. Dimeas, Sotirios I. Sinis, Paraskevi Kirgou, Cormac McCarthy, Zoe Daniil   +4 more
wiley   +1 more source

Polymyositis And Dermatomyositis - Inflammation, Muscle Structure & Immunosuppressive Treatment [PDF]

, 2012
Polymyositis and dermatomyositis are chronic, inflammatory disorders characterized by muscle weakness, low muscle endurance and by inflammation in skeletal muscle tissues.
Loell, Ingela
core   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source