Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Pierre R. Fequiere"'
Autor:
Katherine Pak, Sandra Donkervoort, Payam Mohassel, A. Reghan Foley, Carsten G. Bönnemann, Pierre R. Fequiere, Andrew L. Mammen
Publikováno v:
Muscle & Nerve. 56:1177-1181
Introduction Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against sign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::647d1b3ff6aa3b9b23ae397437f81ee5
https://doi.org/10.1002/mus.25567
https://doi.org/10.1002/mus.25567
Autor:
Camilo Toro, Sandra Donkervoort, Océane Landon-Cardinal, Anthony Behin, Carsten G. Bönnemann, Robert T. Shebert, Pierre R. Fequiere, Bruno Eymard, Katherine Pak, Tanya Stojkovic, Olivier Benveniste, Payam Mohassel, Andrew L. Mammen, Yves Allenbach, Daniel Drachman, Amy Harper, Pascal Laforêt, A. Reghan Foley, Matthew N. Meriggioli, Colleen E. Wahl
Publikováno v:
Neurology® Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation, 2018, 6, pp.e523. ⟨10.1212/NXI.0000000000000523⟩
Neurology Neuroimmunology & Neuroinflammation
Neurology Neuroimmunology & Neuroinflammation, 2018, 6, pp.e523. ⟨10.1212/NXI.0000000000000523⟩
ObjectiveTo determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations.MethodsPatients with presumed LGM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef297b52d82d5962c3efa4ca5524a327
https://pubmed.ncbi.nlm.nih.gov/30588482
https://pubmed.ncbi.nlm.nih.gov/30588482
Publikováno v:
Pediatric Neurology. 48:227-231
Although pyridoxine-dependent seizures have been reported for decades, pyridoxamine phosphate oxidase deficiency has only been recently described. Pyridoxamine phosphate oxidase (PNPO) is one of a series of enzymes involved in converting pyridoxine t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfd8835d5c2a28781a597e0c4ec71948
https://doi.org/10.1016/j.pediatrneurol.2012.11.006
https://doi.org/10.1016/j.pediatrneurol.2012.11.006
Autor:
Payam, Mohassel, A Reghan, Foley, Sandra, Donkervoort, Pierre R, Fequiere, Katherine, Pak, Carsten G, Bönnemann, Andrew L, Mammen
Publikováno v:
Musclenerve. 56(6)
Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognitio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::146930e786fcdcc85bfe25fa45a40b0d
https://pubmed.ncbi.nlm.nih.gov/28066895
https://pubmed.ncbi.nlm.nih.gov/28066895
Autor:
Livija Medne, Carsten G. Bönnemann, Sandra Donkervoort, Pierre R. Fequiere, Lucy B. Rorke-Adams, Katherine G. Meilleur, Ayman W. El-Hattab, Ian C. Hood, Abdulaziz Al-Saman, Jeffrey A. Golden, Richard S. Finkel, Jahannaz Dastgir, Ying Hu, Nina Powell-Hamilton, Ralph C. Eagle, Thomas L. Winder, Mena Scavina, Kristen Zukosky
Publikováno v:
Journal of neuropathology and experimental neurology. 73(5)
Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0be85a83c2fd6d8e68d45cb64bfcca2
https://pubmed.ncbi.nlm.nih.gov/24709677
https://pubmed.ncbi.nlm.nih.gov/24709677
Autor:
Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Fequiere, Pierre R., Pak, Katherine, Bönnemann, Carsten G., Mammen, Andrew L.
Publikováno v:
Muscle & Nerve; Dec2017, Vol. 56 Issue 6, p1177-1181, 5p
Publikováno v:
Muscle & Nerve; Dec2017, Vol. 56 Issue 6, pii-v, 3p