Results 81 to 90 of about 1,745 (185)

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Nature Communications
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy.
Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft   +54 more
doaj   +1 more source

Implications for soluble iron accumulation, oxidative stress, and glial glutamate release in motor neuron death associated with sporadic amyotrophic lateral sclerosis

Neuropathology, Volume 45, Issue 3, Page 177-201, June 2025.
Oxidative stress in sporadic amyotrophic lateral sclerosis (ALS) has been evidenced by accumulation of oxidatively modified products of nucleic acids, lipids, sugars, and proteins in the motor neuron system of brains and spinal cords obtained at autopsy from the patients.
Noriyuki Shibata, Ikuko Kataoka, Yukinori Okamura, Kumiko Murakami, Yoichiro Kato, Tomoko Yamamoto, Kenta Masui   +6 more
wiley   +1 more source

Proteomic Profiling Unravels a Key Role of Specific Macrophage Subtypes in Sporadic Inclusion Body Myositis [PDF]

, 2019
Unbiased proteomic profiling was performed toward the identification of biological parameters relevant in sIBM, thus giving hints about the pathophysiological processes and the existence of new reliable markers. For that purpose, skeletal muscle biopsies
Goebel, Hans-Hilmar, Hathazi, Denisa, Preusse, Corinna, Roos, Andreas, Stenzel, Werner   +4 more
core   +1 more source

Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)

European Journal of Neurology, Volume 32, Issue 1, January 2025.
Abstract Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated with MG.
Katia Staedler, Yves Allenbach, Emmanuelle Salort‐Campana, Edoardo Malfatti, Aude Rigolet, Shahram Attarian, André Maues de Paula, Sarah Léonard‐Louis, Olivier Benveniste, Tanya Stojkovic   +9 more
wiley   +1 more source

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report [PDF]

, 2017
Univ Fed Sao Paulo UNIFESP, Fellowship Otorrinolaringol Pediat, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Fellowship Laringol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept Fonoaudiol, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP, Dept ...
Hashimoto, Tais Yuri, Maeda, Marilia Yuri, Neves, Luciano Rodrigues, Oliveira Neto, Isabella Christina   +3 more
core   +2 more sources

Expanding the importance of HMERF titinopathy : new mutations and clinical aspects [PDF]

, 2019
ObjectiveHereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom.
Attarian, Shahram, Berardo, Andres, Claeys, Kristl G., Cobo, Ana Maria, Fatehi, Farzad, Hackman, Peter, Kress, Wolfram, Kurbatov, Sergei, Lai, Tim, Leonard-Louis, Sarah, Maggi, Lorenzo, Milisenda, Jose C., Mozaffar, Tahseen, Nikitin, Sergei, Palmio, Johanna, Penttilä, Sini, Raimondi, Monika, Reisin, Ricardo, Sacconi, Sabrina, Savarese, Marco, Semmler, Anna-Lena, Silveira, Fernando, Stojkovic, Tanya, Udd, Bjarne, Urtizberea, Andoni   +24 more
core   +5 more sources

Inclusion body myositis: from genetics to clinical trials [PDF]

, 2022
Inclusion body myositis (IBM) belongs to the group of idiopathic inflammatory myopathies and is characterized by a slowly progressive disease course with asymmetric muscle weakness of predominantly the finger flexors and knee extensors. The disease leads
Houlden, Henry, Khan, Alaa, Machado, Pedro M, Nagy, Sara   +3 more
core  

Distal Myopathy with Rimmed Vacuoles [PDF]

The American Journal of Pathology, 2005
Youichi Tajima, Eiichiro Uyama, Shinji Go, Chihiro Sato, Nodoka Tao, Masaharu Kotani, Hirotake Hino, Akemi Suzuki, Yutaka Sanai, Ken Kitajima, Hitoshi Sakuraba   +10 more
openaire   +1 more source

Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches. [PDF]

Dis Model Mech
Treatments for disabling and life-threatening hereditary muscle disorders are finally close to becoming a reality. Research has thus far focused primarily on recessive forms of muscle disease.
Findlay AR.
europepmc   +3 more sources

Lysosomal Myopathies [PDF]

, 2012
How to Cite this Article: Nilipour Y. Lysosomal Myopathies. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):11.Pls See PDF.
NILIPOUR, Yalda
core   +2 more sources