Zobrazeno 1 - 10
of 946
pro vyhledávání: '"H Crosby"'
Autor:
Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Hereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration.
Externí odkaz:
https://doaj.org/article/00273e2104094d10a1cd9099b901bb64
Autor:
Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic
Externí odkaz:
https://doaj.org/article/d4bf35dcfb944293a3a071c1c5bad1e8
Autor:
Jahangir Khan, Saaim Asif, Shamsul Ghani, Hamid Khan, Muhammad Waqar Arshad, Shujaat Ali khan, Siying Lin, Emma L. Baple, Claire Salter, Andrew H. Crosby, Lettie Rawlins, Muhammad Imran Shabbir
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-12 (2024)
Abstract Background Oculocutaneous albinism (OCA) is a genetically heterogeneous condition that is associated with reduced or absent melanin pigment in the skin, hair, and eyes, resulting in reduced vision, high sensitivity to light, and rapid and un
Externí odkaz:
https://doaj.org/article/1f2a6f943b6b41709e1728667e70634f
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Extreme ecosystem modification by humans has caused drastic reductions in populations and ranges of top mammalian predators, while simultaneously allowing synanthropic mesopredator species to expand. These conditions often result in inflated
Externí odkaz:
https://doaj.org/article/fe551fc52c1f4b4d8a8836d13c8e7161
Autor:
Joan Sala-Gaston, Eva M. Pérez-Villegas, José A. Armengol, Lettie E. Rawlins, Emma L. Baple, Andrew H. Crosby, Francesc Ventura, Jose Luis Rosa
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Sequence variants in the HERC2 gene are associated with a significant reduction in HERC2 protein levels and cause a neurodevelopmental disorder known as the HERC2-related disorder, which shares clinical features with Angelman syndrome, inclu
Externí odkaz:
https://doaj.org/article/0e471a4904ad40a3b415c0182d7f8144
Autor:
JM Watson, H Crosby, VM Dale, G Tober, Q Wu, J Lang, R McGovern, D Newbury-Birch, S Parrott, JM Bland, C Drummond, C Godfrey, E Kaner, S Coulton, AESOPS trial team
Publikováno v:
Health Technology Assessment, Vol 17, Iss 25 (2013)
Background: There is clear evidence of the detrimental impact of hazardous alcohol consumption on the physical and mental health of the population. Estimates suggest that hazardous alcohol consumption annually accounts for 150,000 hospital admissions
Externí odkaz:
https://doaj.org/article/4f612873dd3a49a49bd239ff2134c8cb
Autor:
Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Retinitis Pigmentosa (RP) is a clinically and genetically progressive retinal dystrophy associated with severe visual impairments and sometimes blindness, the most common syndromic form of which is Usher syndrome (USH). This study
Externí odkaz:
https://doaj.org/article/714d8d655b1d45cf87f92dd5c5c4f5b4
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Publikováno v:
International Journal of Ophthalmology, Vol 14, Iss 12, Pp 1843-1851 (2021)
AIM: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families. METHODS: Whole exome sequencing (WES) was performed on genomic DNA samples of patients with arRP to identif
Externí odkaz:
https://doaj.org/article/c3bac845aeea470e8176e698a91f0c3b
Autor:
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
Publikováno v:
PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component of the TRAPP II complex,
Externí odkaz:
https://doaj.org/article/5c426a88bf9249aa9daecb2e85ea53bb