Výsledky vyhledávání - "Patrick, MacLeod"

Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN)

Autor: Patrick B. Walter, Michael Minkley, Raad Nashmi, Christopher K. Anderson, Patrick MacLeod

Publikováno v: Brain Research. 1748:147066

Phospholipase A2G6-associated neurodegeneration (PLAN) is a rare early-onset monogenic neurodegenerative movement disorder which targets the basal ganglia and other regions in the central and peripheral nervous system; presenting as a series of heter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba48b400e652e44176b3f031f6bd55c
https://doi.org/10.1016/j.brainres.2020.147066

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One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2

Autor: Dennis Almaguer-Gotay, Georg Auburger, Luis E. Almaguer-Mederos, Nalia Canales-Ochoa, Jorge Aguiar-Santiago, Yasnay Jorge-Sainz, Yaimé Vázquez-Mojena, Roberto Rodríguez-Labrada, Dany Cuello-Almarales, Yanetza González-Zaldivar, Luis Velázquez-Pérez, Patrick MacLeod, Raúl Aguilera-Rodríguez

Publikováno v: Journal of the Neurological Sciences. 409:116586

Background Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder due to a CAG-repeat expansion. This work is intended to identify modifiers of the clinical phenotype in SCA2, following up on recent genome-wide association analyses that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8072af7c691243bde90d83984d81f59d
https://doi.org/10.1016/j.jns.2019.116586

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Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef4d96d00251ad2f619c78bb0c02422e
https://hdl.handle.net/1822/57863

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Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Autor: Cynthia Gershome, Glenda Hendson, Kathryn Selby, Peter C. Ruben, My Linh Thibodeau, Katelin N. Townsend, Shelin Adam, Colin H. Peters, Patrick MacLeod, William T. Gibson, Gabriella Horvath, Jan M. Friedman, Steven J.M. Jones, Yaoqing Shen

Publikováno v: American journal of medical genetics. Part A. 173(11)

TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::037c3873ba2beaec59baa53612025809
https://pubmed.ncbi.nlm.nih.gov/28898540

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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

Autor: Dennis Almaguer-Gotay, Pedro Zayas-Feria, Luis Velázquez-Pérez, Dany Cuello-Almarales, Patrick MacLeod, Raúl Aguilera-Rodríguez, José Miguel Laffita-Mesa, Yaimé Vázquez-Mojena, Yanetza González-Zaldivar, Roberto Rodríguez-Labrada, Luis E. Almaguer-Mederos

Publikováno v: Journal of the neurological sciences. 372

Background Spinocerebellar ataxia type 2 is a neurodegenerative disorder caused by a CAG repeat expansion in ATXN2 gene. There is high clinical variability among affected patients suggesting the occurring of modifier genes influencing the clinical ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c0e49d3224a35f1db443baab70982d
https://pubmed.ncbi.nlm.nih.gov/28017238

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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

Autor: Taimoor I. Sheikh, Josh Silver, Patrick MacLeod, Jane B. Lane, John B. Vincent, Juan Ausió, Hannah Faghfoury, James H. Eubanks, Alan K. Percy

Publikováno v: Scientific Reports

Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In heterozygous females the variable phenotypic severity is modulated by non-random X-ina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0914b6c1b1702490cf0e66822d021948
https://pubmed.ncbi.nlm.nih.gov/27929079

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