Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Daniel Ezzo"'
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631
Autor:
Daniel Ezzo, Livija Medne, Tracy Ogata, Ying Hu, Sandra Donkervoort, Jiani Chen, Richard S. Finkel, Thomas L. Winder, Nathan P. Staff, Dimah Saade, S. Neuhaus, Véronique Bolduc, Manuel Koch, Gihan Tennekoon, P. James B. Dyck, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel, Klaas J. Wierenga, Yaqun Zou, Teerin Liewluck, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by history an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::155c116f2a095691f79c343abd8fc201
http://europepmc.org/articles/PMC6801183
http://europepmc.org/articles/PMC6801183
Autor:
Janbernd Kirschner, Katrin Hinderhofer, Carsten G. Bönnemann, David Schorling, Daniel Ezzo, Rudolf Korinthenberg, Christina Evers, Tobias Dietel
Publikováno v:
Neuropediatrics. 48:371-377
Mutations in GNAO1 (guanine nucleotide-binding protein, alpha-activating activity polypeptide O) were recently identified as being causative for early epileptic encephalopathy. Since then approximately 27 patients with severe developmental delay and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f65eb5a79350ce164157dfa493663220
https://doi.org/10.1055/s-0037-1603977
https://doi.org/10.1055/s-0037-1603977
Autor:
Carsten G. Bönnemann, Ying Hu, A. Reghan Foley, Monkol Lek, Daniel Ezzo, Daniel G. MacArthur, Jamie L. Marshall, Véronique Bolduc, Jahannaz Dastgir, Payam Mohassel, Sandra Donkervoort, Pomi Yun
Publikováno v:
J Neuromuscul Dis
Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of limb-girdle muscular dystrophy with a wide range of phenotypic severity. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::725107470bc08c191b1f75922ce35228
https://europepmc.org/articles/PMC7522968/
https://europepmc.org/articles/PMC7522968/
Autor:
Daniel Ezzo, A. Foley, Sandra Donkervoort, Ying Hu, Nathan P. Staff, Peter J. Dyck, Dimah Saade, Yaqun Zou, Payam Mohassel, Carsten G. Bönnemann, S. Neuhaus, Richard S. Finkel, Véronique Bolduc, Manuel Koch, Thomas L. Winder, J. Chen, Teerin Liewluck, Klaas J. Wierenga, Charlotte J. Sumner, L. Medne
Publikováno v:
Neuromuscular Disorders. 29:S40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5333d3ec3c958d232dc803309c543cca
https://doi.org/10.1016/j.nmd.2019.06.027
https://doi.org/10.1016/j.nmd.2019.06.027
Autor:
Sandra, Donkervoort, Diana, Bharucha-Goebel, Pomi, Yun, Ying, Hu, Payam, Mohassel, Ahmet, Hoke, Wadih M, Zein, Daniel, Ezzo, Andrea M, Atherton, Ann C, Modrcin, Majed, Dasouki, A Reghan, Foley, Carsten G, Bönnemann
Publikováno v:
Neurology: Genetics
Objective: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. Methods: Whole-exome sequencing was performed, and segregation testing of variants was invest
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82acdf442d37b61025420d91170cb298
https://pubmed.ncbi.nlm.nih.gov/28534044
https://pubmed.ncbi.nlm.nih.gov/28534044
Autor:
Carsten G. Bönnemann, Ying Hu, Diana Bharucha-Goebel, Andrea M. Atherton, Sandra Donkervoort, Ahmet Hoke, Payam Mohassel, Ann C. Modrcin, Daniel Ezzo, Majed Dasouki, Pomi Yun, Wadih M. Zein, A. Reghan Foley
Publikováno v:
Neurology Genetics. 3:e151
Objective:To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness.Methods:Whole-exome sequencing was performed, and segregation testing of variants was investiga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e15c16b28b224eb7fae6805b649b775
https://doi.org/10.1212/nxg.0000000000000151
https://doi.org/10.1212/nxg.0000000000000151
Autor:
M. Waite, Sandra Donkervoort, Carsten G. Bönnemann, Tanya J. Lehky, M. Leach, C. Nichols, Diana Bharucha-Goebel, Wadih M. Zein, Payam Mohassel, Daniel Ezzo, Jonathan Marra, M. Jain, Jahannaz Dastgir
Publikováno v:
Neuromuscular Disorders. 25:S284
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09d3bb827e817d931532e5ead527d851
https://doi.org/10.1016/j.nmd.2015.06.353
https://doi.org/10.1016/j.nmd.2015.06.353