Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hatem N. Murad"'
Autor:
Brian F. Meyer, Hatem N. Murad, Ahmad Abulaban, Dorothy M. Monies, Hindi Al-Hindi, Saeed Bohlega
Publikováno v:
Neurosciences
Objectives: Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L). Methods: Over a 2-year period from December 2010
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5daf8cbbf42c070255feab54079fe77
http://europepmc.org/articles/PMC4727640
http://europepmc.org/articles/PMC4727640
Autor:
Hatem N. Murad, Aziza Chedrawi, Khushnooda Ramzan, Zuhair N. Al-Hassnan, Rula Abuthuraya, Haya Al-Dossari, Rana Alomar, Samya Hagos, Saeed Bohlega, Salma M. Wakil, Josef Finsterer
Publikováno v:
Gene. 536(1)
Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af43cee85200ed9c633ae29f7a6fec1
https://pubmed.ncbi.nlm.nih.gov/24315819
https://pubmed.ncbi.nlm.nih.gov/24315819
Autor:
Salma M, Wakil, Hatem N, Murad, Batoul M, Baz, Samiya T, Hagos, Rana A, Al-Amr, Suad A, Al-Yamani, Salem M, Al-Wadaee, Brian F, Meyer, Saeed A, Bohlega
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 17(1)
To assess the mutational and clinical spectrum of spatacsin associated with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC).A retrospective study was carried out at King Faisal Specialist Hospital and Researc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::027d05b016a7b87c2677f0228a2322a8
https://pubmed.ncbi.nlm.nih.gov/22246010
https://pubmed.ncbi.nlm.nih.gov/22246010
Autor:
Abid Kareem, Hatem N. Murad, George Roberts, Adel Al-Jishi, Saeed Bohlega, Anthony P. Monaco, Parthasarathi Saha, Carol Dobson-Stone, Luca Rampoldi
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 18(4)
Chorea-acanthocytosis is a rare autosomal recessive disorder. Its characteristics are orofacial dyskinesia, hyporeflexia, seizures, aberrant behavior, atrophy of the caudate and putamen, and acanthocytes in the blood with a normal level of lipoprotei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014bf53fa3f801d05c75c80ce4540b99
https://pubmed.ncbi.nlm.nih.gov/12671946
https://pubmed.ncbi.nlm.nih.gov/12671946