Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mazhor Al-Dosary"'
Autor:
Dilek Colak, Mazhor Al-Dosary, Hesham Aldhalaan, Namik Kaya, Maha Al-Rasheed, Maysoon Alsagob, Hadeel Jaber, Musaad Abukhalid, Hadeel Alkofide, Mohammed A. AlMuhaizea, Rawan Almass, Laila AlQuait, Albandary Al-Bakheet, Felwa Binhumaid, Hanouf Aldeeb
Publikováno v:
Annals of Human Genetics. 86:34-44
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in the late-first or early-second decade of life with mixed moveme
Autor:
Laila AlQuait, Alaa Edrees, Haya Al‐Joudi, Sameena Khan, Hamoud Al-Mousa, Aziza Chedrawi, Rawan Almass, Mazhor Al-Dosary, Al Bandary Al-Bakheet, Maysoon Alsagob, Ehab Tous, Dilek Colak, Dorota Monies, Lefian Al-Otaibi, Mohammed Al-Owain, Namik Kaya, Abdulaziz Alsemari, Saif Alshahrani, Maha H. Daghestani, Mohamed Tohary
Publikováno v:
Clinical Genetics. 99:724-731
The dysfunction of microtubules (α/β-tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin-folding cofactor, cause diseases highlighted with early-onset encephalopathy with or without neurodege
Autor:
Robert W. Taylor, Alya Qari, Rozeena Huma, Moeenaldeen Al-Sayed, Dilek Colak, Laila AlQuait, Rawan Almass, Maysoon Alsagob, Maha Abdulrahim, Lujane Y. Al-Ahaidib, Basma Alahideb, Eman Alobeid, Tarfa Alshidi, Albandary Al-Bakheet, N. Kaya, Mazhor Al-Dosary, Zainab AlMasseri, Shahad Baselm
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)
JIMD Reports
JIMD Reports
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which
Autor:
Raashda A Sulaiman, Fatima Al-Fadhli, Namik Kaya, Maha Alotaibi, Mazhor Al-Dosary, Mohammed Al-Owain
Publikováno v:
Journal of Biochemical and Clinical Genetics. :81-84
Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyper-inflammatory condition resulting from altered crosstalk between innate and adaptive immune responses. Familial HLH is caused by mutations in several genes whereas the acquired form is as
Autor:
Faten Almutairi, Tarek Mustafa Owaidah, Najmeh Ahangari, Nada Al-Ahmadi, Leslie E. Sanderson, Henry Houlden, Romulo Mombach, Mazhor Al-Dosary, Anoud Abdulmalik Albader, Banan Al-Younes, Osama M. Mustafa, Tainá Regina Damaceno Silveira, Dilek Colak, Namik Kaya, Miriam Schmidts, Hazem Ghebeh, Herma C. van der Linde, Robin Palvadeau, Aida M. Bertoli-Avella, Raghda M Sabbagh, Rawan Almass, Hesham Aldhalaan, Maryam Najafi, Bashayer Alawam, Aljouhra AlHargan, Kristina Lanko, Aljohara Alharbi, Maysoon Alsagob, Bedri Karakas, Reza Maroofian, A. Nazli Basak, Khalid AlAhmadi, Ali Al-Odaib, Arndt Rolfs, Mohammad A. Al-Muhaizea, Elena Perenthaler, Najim Ameziane, Dinu Antony, Futwan Al-Mohanna, Albandary Al-Bakheet, Faisal S. BinHumaid, Anita Nikoncuk, Nikolas A Kühn, Dorota Monies, Ehsan Ghayoor Karimiani, Hamad Al-Zaidan, Tjakko J. van Ham, Ewa Goljan, Luana Gabriela Dalla Rosa Vieira, Jill A. Rosenfeld, Salmo Raskin, Dürdane Aksoy, Brian F. Meyer, Tahsin Stefan Barakat, Daniah Trabzuni, Stefan T. Arold
Publikováno v:
Brain, 144(3), 769-780. Oxford University Press
Brain
Brain
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3829cf3b4e450f526ad567f2a5f9dda5
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
https://pure.eur.nl/en/publications/e4916caa-5909-4a69-8c0c-11eb8621c0a0
Autor:
Zuhair N. Al-Hassnan, Maysoon Alsagob, Mustafa Bulbul, Muhammad Faiyaz-Ul-Haque, Majid Alfadhel, Banan Al-Younes, Dilek Colak, Zuhair Rahbeeni, Aziza Chedrawi, Namik Kaya, Osama M. Mustafa, Mustafa A. Salih, Mazhor Al-Dosary, Moeenaldeen Al-Sayed, Mohammad A. Al-Muhaizea, Mohammed Aldosari, Laila AlQuait, Ali Al-Odaib, Albandary Al-Bakheet, Mohammad Azhar Chishti, Hesham Aldhalaan, Rawan Almass, Mai AlShammari, Olfat Al-Harazi, Hamad Al-Zaidan
Publikováno v:
Omics : a journal of integrative biology. 24(3)
Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT is diagnosed primarily in females, with clinical findings manifesting early in life. Despite the variable rates across populations, RTT has an
Autor:
Nuzhat Rana, Edwin H. Jacobs, Ehsan Ghayoor Karimiani, Amber Begtrup, Jozef Hertecant, Evita Medici-van den Herik, Mohammad Doosti, Gouri Rao Passi, Mohammadreza Dehghani, Tjakko J. van Ham, Mariya Kozenko, Laila AlQuait, Mohammad Yahya Vahidi Mehrjardi, Dilek Colak, Herma C. van der Linde, Henry Houlden, Eleonora Aronica, Huma Arshad Cheema, Jennefer N. Kohler, Namik Kaya, Krishna Kumar Kandaswamy, Salem Alwadaee, Maysoon Alsagob, Woutje M. Berdowski, Zaynab Khazaei, Renjith Mani, Faisal Al Azri, Amna Al Futaisi, Stephanie Efthymiou, Majid Mojarrad, Aida M. Bertoli-Avella, Murat Gunel, Tahsin Stefan Barakat, Wilfred F. J. van IJcken, Kristin G. Monaghan, Rebecca I. Torene, Atieh Eslahi, Fathiya Al Murshedi, Khalid Awartani, Peter Bauer, Muddathir H. Hamad, Kyle Retterer, Reza Maroofian, Rawan Almass, Erik-Jan Kamsteeg, Serdar Coskun, Jonathan A. Bernstein, Elena Perenthaler, Anita Nikoncuk, Mohammed A. AlMuhaizea, Jana Vandrovcova, Anas M. Dababo, Soheil Yousefi, Fateme Massinaei Darmiyan, Mustafa A. Salih, Lauren Brick, A. Gulhan Ercan-Sencicek, Futwan Al-Mohanna, Ivan Čapo, Faisal Zafar, Khaled O. Alahmadi, Marjon van Slegtenhorst, Walter G. de Valk, Mazhor Al-Dosary, Wafa Qubbaj, Alice S. Brooks, Mehrnaz Ghazvini, Paul van den Berg, Darija Putar
Publikováno v:
Acta Neuropathologica, 139(3), 415-442. Springer-Verlag
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442
Acta Neuropathologica, 139, 3, pp. 415-442
Acta Neuropathologica
Acta neuropathologica, 139(3), 415-442. Springer Verlag
Acta Neuropathologica, 139, 415-442
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3763955237f06a661ebe545f037093af
https://pure.eur.nl/en/publications/32aeca04-fe43-4a01-9a05-6c1a562db28c
https://pure.eur.nl/en/publications/32aeca04-fe43-4a01-9a05-6c1a562db28c
Autor:
Banan Al-Younes, Brian F. Meyer, Maria Cristina D'Adamo, Rawan Almass, Jawaher Al-Zahrani, Dilek Colak, Faten B. Almutairi, Osama M. Mustafa, Rosan Kenana, Namik Kaya, Maysoon Alsagob, Dorota Monies, Fatema Almutairi, Mauro Pessia, Alya Qari, Faisal S. BinHumaid, Mohammed Al-Owain, Mazhor Al-Dosary, Sonia Hasan, Maria Muccioli, Albandary Al-Bakheet, Timothy F. Plageman, Ewa A. Naim
Publikováno v:
Journal of Medical Genetics. 53:786-792
Background Voltage-gated potassium channels are highly diverse proteins representing the most complex class of voltage-gated ion channels from structural and functional perspectives. Deficiency of these channels usually results in various human disor
Autor:
Ali Al-Odaib, Maysoon Alsagob, Mazhor Al-Dosary, Dilek Colak, Namik Kaya, Faten B. Almutairi, Safinaz AlHarthi, Rawan Almass, Mohammad A. Al-Muhaizea
Publikováno v:
Cerebellum (London, England). 17(3)
The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family. Using genome-
Autor:
Zuhair N. Al-Hassnan, Majid Alfadhel, Tarfa Al-Sheddi, Eissa Faqeih, Maysoon Alsagob, Omhani I Malibari, Rana Alamro, Rawan Almass, Olfat Al-Harazi, Hesham Alshaalan, Faten B Almutari, Hindi Al-Hindi, Ali Alasmari, Mazhor Al-Dosary, Sahar Tulbah, Rosan Kenana, Faten Alhadeq, Makki Almuntashri, Futwan Al-Mohanna, Dilek Colak, Namik Kaya
Publikováno v:
Journal of Medical Genetics. 52:186-194
Background There are numerous nuclear genes that cause mitochondrial disorders and clinically and genetically heterogeneous disorders whose aetiology often remains unsolved. In this study, we aim to investigate an autosomal recessive syndrome causing