Zobrazeno 1 - 10
of 63
pro vyhledávání: '"H A, Jinnah"'
Autor:
Paula Escudero-Ferruz, Neus Ontiveros, Claudia Cano-Estrada, Diane J. Sutcliffe, H. A. Jinnah, Rosa J. Torres, José M. López
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-20 (2024)
Abstract Background Lesch-Nyhan disease (LND) is a severe neurological disorder caused by the genetic deficiency of hypoxanthine–guanine phosphoribosyltransferase (HGprt), an enzyme involved in the salvage synthesis of purines. To compensate this d
Externí odkaz:
https://doaj.org/article/830ee5f58ba54cb1a6a2b21e4d1e1c43
Publikováno v:
Dystonia, Vol 3 (2024)
Introduction: This study explores the effects of botulinum neurotoxin (BoNT) on the relationship between dystonia and tremor, specifically focusing on cervical dystonia (CD) and its connection to head tremor.Methods: Fourteen CD patients were recruit
Externí odkaz:
https://doaj.org/article/1e65c92f4f4e4ac4b3985284388d4a40
Autor:
Kathryn J. Peall, Brian D. Berman, Norbert Bruggemann, Giovanni Defazio, Hortensia Gimeno, H. A. Jinnah, Joel S. Perlmutter, Sarah E. Pirio Richardson, Emmanuel Roze, Anette Schrag, Michele Tinazzi, Marie Vidailhet, Aparna Wagle Shukla, Yulia Worbe, Jan K. Teller, Davide Martino
Publikováno v:
Dystonia, Vol 2 (2023)
The Dystonia Medical Research Foundation organized an expert virtual workshop in March 2023 to review the evidence on non-motor symptoms across the spectrum of dystonia, discuss existing assessment methods, need for their harmonisation and roadmap to
Externí odkaz:
https://doaj.org/article/6b388cc72233435b954148f04becee67
Autor:
J. R. Younce, R. H. Cascella, B. D. Berman, H. A. Jinnah, S Bellows, J. Feuerstein, A. Wagle Shukla, A. Mahajan, F. C. F. Chang, K. R. Duque, S. Reich, S. Pirio Richardson, A. Deik, N. Stover, J. M. Luna, S. A. Norris
Publikováno v:
Dystonia, Vol 2 (2023)
According to expert consensus, dystonia can be classified as focal, segmental, multifocal, and generalized, based on the affected body distribution. To provide an empirical and data-driven approach to categorizing these distributions, we used a data-
Externí odkaz:
https://doaj.org/article/4ef61a40aaaa4c7dbcc1f06404664e0d
Autor:
Diane J. Sutcliffe, Ashok R. Dinasarapu, Jasper E. Visser, Joery den Hoed, Fatemeh Seifar, Piyush Joshi, Irene Ceballos-Picot, Tejas Sardar, Ellen J. Hess, Yan V. Sun, Zhexing Wen, Michael E. Zwick, H. A. Jinnah
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem c
Externí odkaz:
https://doaj.org/article/957b5bb790da4d86aa190f7843f35d1e
Autor:
Laura M. Scorr, Stewart A. Factor, Sahyli Perez Parra, Rachel Kaye, Randal C. Paniello, Scott A. Norris, Joel S. Perlmutter, Tobias Bäumer, Tatiana Usnich, Brian D. Berman, Marie Mailly, Emmanuel Roze, Marie Vidailhet, Joseph Jankovic, Mark S. LeDoux, Richard Barbano, Florence C. F. Chang, Victor S. C. Fung, Sarah Pirio Richardson, Andrew Blitzer, H. A. Jinnah
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis.Methods: First, we provide a comprehensive summary of the literature encompassing
Externí odkaz:
https://doaj.org/article/0634a2ad37b94f16a06e33a9b223c951
Autor:
Gamze Kilic-Berkmen, Laura J. Wright, Joel S. Perlmutter, Cynthia Comella, Mark Hallett, Jan Teller, Sarah Pirio Richardson, David A. Peterson, Carlos Cruchaga, Codrin Lungu, H. A. Jinnah
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both. Research in dystonia has been challenged by several factors. First, dystonia is uncommon. Dystoni
Externí odkaz:
https://doaj.org/article/049929686ec44673a25bd21ef565ad7e
Autor:
Niccolo E. Mencacci, H. A. Jinnah
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-6 (2019)
Dystonias are a clinically and etiologically diverse group of disorders. Numerous genes have now been associated with different dystonia syndromes, and multiple strategies have been proposed for how these genes should be lumped and split into meaning
Externí odkaz:
https://doaj.org/article/ef8019a107bc4f80809b573088937f36
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Autor:
Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-12 (2019)
Abstract Background Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA). Objectives To assess PKAN diagnostic pathway, history, and burden across the spectru
Externí odkaz:
https://doaj.org/article/6908f3b545944cc4a900233e729fcb94
Autor:
Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyp
Externí odkaz:
https://doaj.org/article/ff16c313e79a4724aba91300ea38e186