التفاصيل البيبلوغرافية
العنوان:
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
المؤلفون:
Karen E. Morrison , Athina Soragia Gkazi , Claire Troakes , Jacqueline de Belleroche , Christopher Shaw , Bradley N. Smith , Simon Topp , Pamela J. Shaw , Ammar Al-Chalabi , Jack W. Miller , Safa Al-Sarraj , Caroline Vance , Chun Hao Wong , Janine Kirby , Martina de Majo
المساهمون:
Medical Research Council (MRC)
المصدر:
2908.e18
بيانات النشر:
Elsevier, 2015.
سنة النشر:
2015
مصطلحات موضوعية:
Male , Oncology , Aging , medicine.medical_specialty , Pathology , Geriatrics & Gerontology , Cohort Studies , Mitochondrial Proteins , Open Reading Frames , symbols.namesake , Exon , Internal medicine , Genetic variation , medicine , Genetics , Humans , Amyotrophic lateral sclerosis , Mitochondrial protein , Genetic Association Studies , Sanger sequencing , Science & Technology , Neurology & Neurosurgery , business.industry , General Neuroscience , Neurosciences , Genetic Variation , 1103 Clinical Sciences , Exons , Sequence Analysis, DNA , medicine.disease , United Kingdom , CHCHD10 , Cohort , symbols , Female , Neurology (clinical) , Neurosciences & Neurology , Geriatrics and Gerontology , ALS , business , 1109 Neurosciences , Life Sciences & Biomedicine , Developmental Biology , Frontotemporal dementia , Cohort study
الوصف:
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened a cohort of 425 UK ALS ± frontotemporal dementia patients and 576 local controls in all coding exons of CHCHD10 by Sanger sequencing. We identified a previously reported p.P34S variant that is also present in neurologically healthy controls (p = 0.58). Our results suggest that CHCHD10 is not a primary cause of ALS in UK cases.
اللغة:
English
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d52e2dd1ef40be06aed27d0b9ffadeba http://hdl.handle.net/10044/1/30741
حقوق:
OPEN
رقم الأكسشن:
edsair.doi.dedup.....d52e2dd1ef40be06aed27d0b9ffadeba
قاعدة البيانات:
OpenAIRE
