Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Grace McMacken"'
Autor:
Sally Spendiff, Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O'Connor, Clarke Slater, Stefan Hettwer, Armin Mäder, Andreas Roos, Rita Horvath, Hanns Lochmüller
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early with fatigable weakness and
Externí odkaz:
https://doaj.org/article/abdd85adee9246eda39df3320d66f035
Publikováno v:
Journal of Neurology. 270:3112-3119
Objectives Inherited defects of the neuromuscular junction (NMJ) comprise an increasingly diverse range of diseases. Several recently identified genes highlight the overlap between peripheral neuropathies and congenital myasthenic syndromes (CMS). Th
Autor:
Rita Barresi, Grace McMacken, Rita Horvath, Richard Charlton, Roger G. Whittaker, Hanns Lochmüller
Publikováno v:
European Journal of Neurology. 28:297-304
Background and purpose In a subset of patients with inherited peripheral neuropathies the first symptom is atrophy and weakness of the intrinsic muscles of the hands, without involvement of lower limbs until later in the disease course. The exact pat
Autor:
Victoria Biancavilla, A. Reghan Foley, Carsten G. Bönnemann, Maha S. Zaki, Rita Horvath, Sandra Donkervoort, Joseph G. Gleeson, Tobias B. Haack, Matthew Nalls, Chunyu Cai, Katherine R. Chao, Corien C. Verschuuren-Bemelmans, Lucia Laugwitz, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Erik-Jan Kamsteeg, Susan T. Iannaccone, Grace McMacken, Annemarie Fock, Nicol C. Voermans, Payam Mohassel, Veronka Horber, Hanns Lochmüller, Henry Houlden, Tanya J. Lehky, Molly Snyder, Riley M. McCarty, Minal S. Jain
Publikováno v:
Am J Med Genet A
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
American Journal of Medical Genetics. Part A, 182(10), 2272-2283. Wiley
American Journal of Medical Genetics. Part A, 182, 10, pp. 2272-2283
American Journal of Medical Genetics. Part A, 182, 2272-2283
Contains fulltext : 229372.pdf (Publisher’s version ) (Closed access) Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a9a905427015a1435a6bd473ac4d8e4
https://doi.org/10.1002/ajmg.a.61765
https://doi.org/10.1002/ajmg.a.61765
Autor:
Gavin Falkous, Robert McFarland, Karen Baty, Grace McMacken, Robert W. Taylor, Monika Oláhová, Sila Hopton, Chiara Marini-Bettolo, Ana Töpf, Francesca Rastelli, Hanns Lochmüller, Albert Z Lim
Publikováno v:
Neuromuscular Disorders
Highlights • This novel m.5860delTA variant in the MT-TY gene that caused mitochondrial disorder can manifest clinical features suggestive of myasthenic syndromes. • This variant has been demonstrated to be pathogenic by our histochemical, immuno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0feebd09c1156eae2c798083fe60a9fe
http://hdl.handle.net/10230/45538
http://hdl.handle.net/10230/45538
Autor:
Angela Abicht, Marina Dusl, Teresinha Evangelista, Grace McMacken, Hanns Lochmüller, Roger G. Whittaker
Publikováno v:
Journal of Neurology
Background Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in the
Autor:
Janbernd Kirschner, Cynthia C. Jones, Agata Robertson, Grace McMacken, Ingrid E.C. Verhaart, Suzanne F. Cook, Kirsten König, Hanns Lochmüller, Rebecca Leary
Publikováno v:
Journal of Neurology
In spinal muscular atrophy (SMA), degeneration of motor neurons causes progressive muscular weakness, which is caused by homozygous deletion of the SMN1 gene. Available epidemiological data on SMA are scarce, often outdated, and limited to relatively
Publikováno v:
Neuropediatrics. 48:294-308
The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result in an increasing range of phenotypes, but which are all due to inherited defects at the neuromuscular junction (NMJ). Although some patients remain genetically un
Autor:
Grace McMacken, Robert Muni-Lofra, Sandra Moreira, Hanns Lochmüller, Michela Guglieri, Geraldine Bailey, Maggie Williams, Anna Mayhew, Gail Eglon, Debbie Smith, Volker Straub, Teresinha Evangelista, Libby Wood, Chiara Marini-Bettolo
Publikováno v:
Journal of Neurology
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Sca