Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Siamak Karkheiran"'
Publikováno v:
Sālmand, Vol 9, Iss 1, Pp 40-45 (2014)
Objectives: “Voice” is affected more and sooner than other speech subsystems in Parkinson's Disease (PD). Voice Handicap Index (VHI) is the most applicable subjective self-rating questionnaire in VD patients. The aim of this study was the investi
Externí odkaz:
https://doaj.org/article/40bfcb49eab34a9f9a81e96de68d9eed
Publikováno v:
Medical Journal of The Islamic Republic of Iran, Vol 26, Iss 4, Pp 157-163 (2012)
Abstract Background: One third of patients with Parkinson’s disease (PD) have mentioned “dysphonia” as their most debilitating communication deficit. Patient-based measurements, such as Voice Handicap Index (VHI) add necessary supplementary inf
Externí odkaz:
https://doaj.org/article/945fa2f6b1d140ecab57678de166c2eb
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 5 (2015)
Background:Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical
Externí odkaz:
https://doaj.org/article/8ce7f51f0ab047d5a9d1be3acb823a8f
Autor:
Ramak Roohipoor, Nazanin Ebrahimiadib, Siamak Karkheiran, Bobeck S. Modjtahedi, Reza Karkhaneh
Publikováno v:
Canadian Journal of Ophthalmology. 52:e125-e127
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c0b8c3ca37bc12619dbcf29f15f9f5e
https://doi.org/10.1016/j.jcjo.2017.01.020
https://doi.org/10.1016/j.jcjo.2017.01.020
Autor:
Babak Emamalizadeh, Atefeh Talebi, Abolfazl Movafagh, Seyed Mohammad Hassan Paknejad, Negar Pedram, Leyla HaghNejad, Nilofar Safavi Naeini, Saghar Ghasemi Firouzabadi, Mir Davood Omrani, Eznollah Azargashb, Matin Kayyal, Gholam Ali Shahidi, Ali Khaligh, Javad Jamshidi, Hossein Ashrafian, Hamid Reza Heidari-Rostami, Hossein Darvish, Hamid Noorollahi-Moghaddam, Siamak Karkheiran, Mojdeh Akbari, Siamak Abdi
Publikováno v:
Neuroscience Letters. 551:75-78
Parkinson's disease (PD) is the second most common neurodegenerative disorder, after Alzheimer's disease. Genomic rearrangements are common mutations reported in PD patients. In this study, we investigated the prevalence of genomic rearrangements in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e99002ccf80ceed1c9f73a24ddc6cf
https://doi.org/10.1016/j.neulet.2013.07.013
https://doi.org/10.1016/j.neulet.2013.07.013
Autor:
Catharine E. Krebs, Pietro De Camilli, Gholam Ali Shahidi, Gilbert Di Paolo, Hossein Darvish, Joseph D. Buxbaum, Zhenyu Yue, Ruth H. Walker, Vladimir Makarov, Siamak Karkheiran, Mian Cao, James C. Powell, Coro Paisán-Ruiz
Publikováno v:
Human Mutation. 34:1200-1207
This study aimed to elucidate the genetic causes underlying early-onset Parkinsonism (EOP) in a consanguineous Iranian family. To attain this, homozygosity mapping and whole-exome sequencing were performed. As a result, a homozygous mutation (c.773G>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ac9cccf2fdb78beef422b5db281e5d
https://doi.org/10.1002/humu.22372
https://doi.org/10.1002/humu.22372
Autor:
Yalda Nilipour, Gholam Ali Shahidi, Hossein Darvish, Joseph D. Buxbaum, Siamak Karkheiran, Coro Paisán-Ruiz, Catharine E. Krebs, Benjamin Hubert, Steven J. Frucht, Vladimir Makarov
Publikováno v:
Human Genetics. 132:275-283
In this study, a consanguineous family with progressive myoclonus epilepsy (PME) was clinically examined and molecularly investigated to determine the molecular events causing disease. Since exclusion of known genes indicated that novel genes causing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6033016b70055f26652930be033139d8
https://doi.org/10.1007/s00439-012-1248-1
https://doi.org/10.1007/s00439-012-1248-1
Autor:
Luis J. Azcona, J. C. Wang, Abbas Tafakhori, Siamak Karkheiran, Elizabeth Sikora, Hossein Darvish, Somayeh Alinaghi, Coro Paisán-Ruiz, Alison Goate
Publikováno v:
Neurobiology of Aging. 62:244.e15-244.e17
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. In this study, we identified 2 PSEN1 mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c15c68cea6ff6a904473d0bddd971a
https://doi.org/10.1016/j.neurobiolaging.2017.10.011
https://doi.org/10.1016/j.neurobiolaging.2017.10.011
Publikováno v:
Clinical Genetics. 83:392-394
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a619df1fbc1174f627f6fd301c7d4bda
https://doi.org/10.1111/j.1399-0004.2012.01915.x
https://doi.org/10.1111/j.1399-0004.2012.01915.x
Autor:
Farzad, Shidfar, Peivand, Babaii Darabkhani, Leila, Yazdanpanah, Siamak, Karkheiran, Hamid, Noorollahi-Moghaddam, Hamid, Haghani
Publikováno v:
Medical Journal of the Islamic Republic of Iran
Background: Malnutrition, loss of body weight, muscle and fat mass wasting are common in patients with Parkinson's disease, and are associated with disability, longer length of hospital stay, impaired immune system and increased risk of mortality. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ee36ba1562030abb151e583223b291b8
https://pubmed.ncbi.nlm.nih.gov/28491829
https://pubmed.ncbi.nlm.nih.gov/28491829