Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Himesha vandebona"'
Autor:
Anne Grünewald, Lisa Voges, Aleksandar Rakovic, Meike Kasten, Himesha Vandebona, Claudia Hemmelmann, Katja Lohmann, Slobodanka Orolicki, Alfredo Ramirez, Anthony H V Schapira, Peter P Pramstaller, Carolyn M Sue, Christine Klein
Publikováno v:
PLoS ONE, Vol 5, Iss 9, p e12962 (2010)
Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase Parkin has been reported to be involved in respiratory chain function and mitochondrial dynamics. M
Externí odkaz:
https://doaj.org/article/0cdf43fbc1dd4d02a28dc1e66683c592
Publikováno v:
Internal Medicine Journal. 43:150-156
Background/Aim The nuclear POLG gene encodes the catalytic subunit of DNA polymerase gamma (polγ), the only polymerase involved in the replication and proofreading of mitochondrial DNA. As a consequence, POLG mutations can cause disease through impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f1a6edb4c55c2fc6f0ccfae64d810f3
https://doi.org/10.1111/j.1445-5994.2012.02847.x
https://doi.org/10.1111/j.1445-5994.2012.02847.x
Publikováno v:
Internal Medicine Journal. 42:1342-1347
Background Hereditary spastic paraplegia (HSP) is often caused by mutations in the SPAST gene. The frequency of SPAST mutations causing HSP in Australian patients is currently unknown. Aim We aimed to determine the frequency of SPAST gene mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c996eab7643b22be9bcc44ba3a77d5b2
https://doi.org/10.1111/j.1445-5994.2012.02941.x
https://doi.org/10.1111/j.1445-5994.2012.02941.x
Publikováno v:
Muscle & Nerve. 41:412-415
We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31b3cc2418466bd3b7bea8cdce8ec711
https://doi.org/10.1002/mus.21610
https://doi.org/10.1002/mus.21610
Autor:
Malcolm K. Horne, Carolyn M. Sue, Himesha Vandebona, John B.J. Kwok, Michael J. Garlepp, Glenda M. Halliday, Yue Huang, Frank L. Mastaglia, Katya Kotschet, Justin P. Rubio, Julia Stevens, Alison Venn, Dominic B. Rowe, Peter A. Silburn, George D. Mellick
Publikováno v:
Movement Disorders. 22:982-989
We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc0d9ba912d110c859e423ed45c495d
https://doi.org/10.1002/mds.21477
https://doi.org/10.1002/mds.21477
Autor:
W. D. Ratnasooriya, Ralph Tiedemann, Maya B. Gunasekera, Himesha vandebona, Nalin C. W. Goonesekere
Publikováno v:
Mammalian Biology. 67:193-205
Summary The elephant population in Sri Lanka, estimated to be 4000, is currently fragmented and restricted mainly to a few elephant reserves. As a prerequisite for future conservation and management measures, this study aims at assessing the genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6517b4ad8e0e84a82dbad19163dc2bfa
https://doi.org/10.1078/1616-5047-00030
https://doi.org/10.1078/1616-5047-00030
Autor:
Bamini Gopinath, Carolyn M. Sue, Paul Mitchell, Kate Griffiths, Himesha Vandebona, Neil Manwaring, Jie Jin Wang
Publikováno v:
New England Journal of Medicine. 360:642-644
To the Editor: Sensorineural hearing loss is the most common type of sensory impairment worldwide.1 We have found that pathogenic mitochondrial DNA (mtDNA) mutations, such as the m.3243A→G mutation...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77310ffa7e3ab6c7e34cd8c94106c167
https://doi.org/10.1056/nejmc0806397
https://doi.org/10.1056/nejmc0806397
Autor:
Arndt Rolfs, Himesha Vandebona, Karl Ng, Christine Klein, David M. Sharpe, Viatcheslav Saviouk, Carolyn M. Sue, Nicholas F. Blair, Christina Liang, Anne Grünewald, Uta Gölnitz, Kishore R. Kumar
Publikováno v:
Journal of neurology. 260(10)
Molecular characterization is important for an accurate diagnosis in hereditary spastic paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of autosomal dominant forms. We performed targeted next generation sequencing (NGS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7161ad8191360b40a93f49191e34756
https://pubmed.ncbi.nlm.nih.gov/23812641
https://pubmed.ncbi.nlm.nih.gov/23812641
Publikováno v:
Musclenerve. 41(3)
We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2c15d6ac742564bd4351184bdeb4a159
https://pubmed.ncbi.nlm.nih.gov/20120005
https://pubmed.ncbi.nlm.nih.gov/20120005
Autor:
Glenda M. Halliday, Neil Manwaring, Dominic B. Rowe, Paul Mitchell, George D. Mellick, Himesha Vandebona, Peter A. Silburn, Prachi Mehta, Carolyn M. Sue, Jie Jin Wang, Michael M. Jones
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 24(2)
MtDNA haplogroups J and K have been associated with a decreased risk of developing Parkinson's disease (PD). To confirm this finding, we compared the distribution of mtDNA haplogroups J and K in a large sample of Australian patients with PD (n = 890)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08e041441eb1719f7233d4676b87e98
https://pubmed.ncbi.nlm.nih.gov/19086081
https://pubmed.ncbi.nlm.nih.gov/19086081