Zobrazeno 1 - 10
of 111
pro vyhledávání: '"MG Sweeney"'
Autor:
Julian Blake, David Hilton-Jones, MG Sweeney, Mary M. Reilly, I.P. Nelson, H Houlden, Nicholas W. Wood, Ming-Jen Lee
X-linked Charcot-Marie-Tooth disease (CMTX) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX, as in other forms of Charcot-Marie-Tooth disease (CMT), are distal m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f339573347e5bb8b74b9b7fe8a455a
https://ora.ox.ac.uk/objects/uuid:39d75b72-c7c0-44c5-96c0-e7d7b9586cd8
https://ora.ox.ac.uk/objects/uuid:39d75b72-c7c0-44c5-96c0-e7d7b9586cd8
Autor:
Georgios Koutsis, Georgia Karadima, Marios Panas, Nicholas W. Wood, Reema Paudel, Amelie Pandraud, Henry Houlden, MG Sweeney
Publikováno v:
Journal of Neurology. 259:1874-1878
Huntington’s disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenoco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d392b67032a4ea9b999ccfcdee335dd
https://doi.org/10.1007/s00415-012-6430-9
https://doi.org/10.1007/s00415-012-6430-9
Autor:
Nw Wood, Marina Frontali, Elide Mantuano, Paola Giunti, Mb Davis, Liana Veneziano, G. Sabbadini, R Plasmati, MG Sweeney, Antonio Federico
Publikováno v:
Brain. 121:459-467
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed176beba55722bf9eb7ff6748e0b924
https://doi.org/10.1093/brain/121.3.459
https://doi.org/10.1093/brain/121.3.459
Autor:
Wilson Marques, MG Sweeney, J. Tyson, A. E. Harding, S. Malcolm, J. L. Bradley, Rosalind H.M. King, J. R. Muddle, P. K. Thomas, Mary B. Davis
Publikováno v:
Brain. 120:465-478
Clinical and electrophysiological investigations and nerve biopsies were carried out on 61 patients shown to have a chromosome 17p11.2 duplication (hereditary motor and sensory neuropathy-HMSN Ia). Of these, 50 showed a Charcot-Marie-Tooth (CMT) phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c7d9794296988bdf90c7ec71fd14084
https://doi.org/10.1093/brain/120.3.465
https://doi.org/10.1093/brain/120.3.465
Publikováno v:
Brain. 118:1077-1085
Affected members of 63 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCA), and 29 patients with similar phenotypes but no affected relatives, were investigated for the trinucleotide (CAG) repeat expansion described in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502e4f278378e8071023cf43261c6d54
https://doi.org/10.1093/brain/118.5.1077
https://doi.org/10.1093/brain/118.5.1077
Autor:
Susanne A. Schneider, Iris Trender-Gerhard, Kailash P. Bhatia, T. Gasser, Nicholas W. Wood, MG Sweeney, Mark David McGregor Davis, Friedrich Asmus, M. D. Mohire
The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d4a2c8b94c2b4c18b0e37ebf6d0c80
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=33645006572
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=33645006572
Autor:
Nicholas W. Wood, MG Sweeney, K K Sinha, V J Stinton, Kailash P. Bhatia, D K Jha, PF Worth, Mary B. Davis, S Sinha
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 75(3)
Objective: Spinocerebellar ataxia type 2 (SCA2) has been reported as the commonest dominant hereditary ataxia in India. However, India is an ethnically and religiously diverse population. Previous studies have not clearly indicated exact ethnic and r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9412d92fc5e5a8965ec5a1265a82e34e
https://pubmed.ncbi.nlm.nih.gov/14966163
https://pubmed.ncbi.nlm.nih.gov/14966163
Autor:
Mg, Hanna, isabelle nelson, Mg, Sweeney, Jm, Cooper, Pj, Watkins, Ja, Morgan-Hughes, Ae, Harding
Publikováno v:
Europe PubMed Central
We report the clinical, biochemical, and molecular genetic findings in a family with an unusual mitochondrial disease phenotype harboring a novel mtDNA tRNA glutamic acid mutation at position 14709. The proband and his sister presented with congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab2de274e84fdbdadad21e88209f01cc
https://pubmed.ncbi.nlm.nih.gov/7726155
https://pubmed.ncbi.nlm.nih.gov/7726155
Autor:
Paola Giunti, A Li, Sarah J. Tabrizi, Henry Houlden, Colm Treacy, Marianne J.U. Novak, Mark David McGregor Davis, MG Sweeney, Robert Goold
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 81:e32-e32
An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description of a novel kindred. Spinocerebellar ataxia (SCA) 15/16 is an autosomal dominantly inherited, almost pure cerebellar ataxia, which shows slow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70df513b9950244657c8a3b91cceeaa8
https://doi.org/10.1136/jnnp.2010.226340.60
https://doi.org/10.1136/jnnp.2010.226340.60
Autor:
C. Jodice, Paola Giunti, MG Sweeney, Maria Spadaro, Andrea Novelletto, Marina Frontali, Patrizia Malaspina, A. E. Harding
Publikováno v:
Scopus-Elsevier
Affected members of 73 families with a variety of autosomal dominant late onset cerebellar ataxias (ADCAs) were investigated for the trinucleotide (CAG) repeat expansion which is found in pedigrees exhibiting linkage to the SCA1 locus OPE chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aba79a8e1f1482f02e7d9774fc67715
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028037806&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028037806&partnerID=MN8TOARS