Zobrazeno 1 - 10
of 29
pro vyhledávání: '"R. Hammans"'
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Allgrove or 4 'A' syndrome: an autosomal recessive syndrome causing multisystem neurological disease
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 74:654-657
Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168d6f212b12fbd92ab6f9e9d93c7792
https://doi.org/10.1136/jnnp.74.5.654
https://doi.org/10.1136/jnnp.74.5.654
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 70:65-69
OBJECTIVES—The syndrome of X-linked sideroblastic anaemia with ataxia is rare, described only twice in the literature. The aim was to obtain clinical neurological and haematological data about this rare syndrome throughout adult life. METHODS—A f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8bb7aafd1ceb232dadcdb2373c59d6
https://doi.org/10.1136/jnnp.70.1.65
https://doi.org/10.1136/jnnp.70.1.65
Autor:
S R Hammans
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 61:327-332
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc5363411fd91feca35ddf23768db16
https://doi.org/10.1136/jnnp.61.4.327
https://doi.org/10.1136/jnnp.61.4.327
Autor:
Paul J. Whiting, Smith David W, Dalip J. S. Sirinathsinghji, Raymond G. Hill, S. Kelly, J.H. Xuereb, A. J. Butler, R. Hills, R. Hammans, B. Le Bourdelles, Michael Rigby, Robert P. Heavens
Publikováno v:
Neuroscience. 73:429-447
The expression of the messenger RNAs encoding N-methyl- d-aspartate receptor subunits in neurologically normal post-mortem human brain was studied by in situ hybridization. In the caudate, putamen and nucleus accumbens strong hybridization signals we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a348887ee41f0fcc04f64ffa56e513d
https://doi.org/10.1016/0306-4522(96)00089-9
https://doi.org/10.1016/0306-4522(96)00089-9
Publikováno v:
Journal of Neurology. 241:335-340
Five patients from three families with the syndrome of myoclonic epilepsy and ragged red fibres (MERRF), associated with the mitochondrial DNA point mutation at position 8344, were studied neurophysiologically to determine the characteristics of thei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eec4c7beebb9d178601e892e7d95480
https://doi.org/10.1007/bf00868443
https://doi.org/10.1007/bf00868443
Autor:
A. E. Harding, S. R. Hammans
Publikováno v:
Journal of Inherited Metabolic Disease. 15:480-486
Single large deletions of mitochondrial DNA are found in the muscle of about 40% of patients with mitochondrial myopathies, and are detectable in both blood and muscle in Pearson syndrome. In mitochondrial myopathies, there is a close association bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6137c3fce5249e73cd540f6d63bc1079
https://doi.org/10.1007/bf01799606
https://doi.org/10.1007/bf01799606
