Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Mohammad M. Kabiraj"'
Autor:
Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 11 (2013)
Externí odkaz:
https://doaj.org/article/232d7ed6a829492b887c2d4fafbbd979
Autor:
Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation
Externí odkaz:
https://doaj.org/article/97df3926904048ffaa54612dd30d667d
Publikováno v:
Clinical Child Neurology ISBN: 9783319431529
Neurological assessment of the neonate begins by gathering as much information as possible on the antenatal and birth histories. The family and social histories are also of paramount importance. For instance, previous neonatal deaths in the family ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::addcb5d564fb7ef6cc1f8f57d6dfe040
https://doi.org/10.1007/978-3-319-43153-6_2
https://doi.org/10.1007/978-3-319-43153-6_2
Publikováno v:
Clinical Child Neurology ISBN: 9783319431529
Classification of epilepsies and their organization into epilepsy syndromes are primarily for clinical purposes since it influences every clinical consultation. It also forms the foundation of choosing the appropriate anti-seizure medication(s) and i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6303c7866985fc537c705f68d1f9303d
https://doi.org/10.1007/978-3-319-43153-6_29
https://doi.org/10.1007/978-3-319-43153-6_29
Autor:
Fowzan S. Alkuraya, Catherine Mooney, Arif O. Khan, Salah A. Elmalik, Henry Houlden, Hamid Azzedine, Michael C. Kruer, Mohammad M. Kabiraj, Mustafa A. Salih, Jawahir Al-Zahrani, Reema Paudel
Publikováno v:
Gene, vol. 537, no. 2, pp. 352-356
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d168094b147303310ae514dc108fa8b0
https://doi.org/10.1016/j.gene.2013.11.039
https://doi.org/10.1016/j.gene.2013.11.039
Autor:
Manju A. Kurian, Kutay Deniz Atabay, Jennifer N. Partlow, Emilie Martin, Christopher J. Yuskaitis, Francesco M. Lasorsa, Mustafa A. Salih, Sanjeev V. Kothare, Tommy Stödberg, Salah A. Elmalik, Fahad A. Bashiri, Mohammad M. Kabiraj, Erin L. Heinzen, Ferdinando Palmieri, Radwan M. Zeidan, Annapurna Poduri, Amy McTague, Christopher A. Walsh, P. Christina Elhosary, Robert Sean Hill, Brenda J. Barry, Ingrid E. Scheffer, Vida Chitsazzadeh, Christopher M. LaCoursiere, A. James Barkovich
Publikováno v:
Annals of Neurology. 74:873-882
Objective To identify a genetic cause for migrating partial seizures in infancy (MPSI). Methods We characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c17e0e458a9b034b510a54fb56faefd0
https://doi.org/10.1002/ana.23998
https://doi.org/10.1002/ana.23998
Autor:
Friederike Hoellen, Gerhard Kurlemann, Agnes Herczegfalvi, Mohammad M. Kabiraj, Enrico Bertini, Juan J. Vílchez, Mustafa A. Salih, Adele D'Amico, Joachim Wölfle, Angela Abicht, Dana Siskova, Vedrana Milic Rasic, Jaume Colomer, Katarina Fabriciova, Juliane S. Müller, Ulrike Schara, Hanns Lochmüller, V. Mihaylova, Felix Schreiner, Bernhard Weschke, Rosana Herminia Scola
Publikováno v:
Brain. 131:747-759
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COLQ) cause syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9eae3970323ff8f8f2325160399063
https://doi.org/10.1093/brain/awm325
https://doi.org/10.1093/brain/awm325
Autor:
Mohammad M, Kabiraj
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 17(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::93129ccc70f8e2adb5fe76ce8e9eedf8
https://pubmed.ncbi.nlm.nih.gov/23301280
https://pubmed.ncbi.nlm.nih.gov/23301280
Autor:
Amal Y. Kentab, Mohammad M. Kabiraj, Mustafa A. Salih, Hamad Al-Zaidan, Michel Koenig, Giovanni Stevanin, Hamdy H. Hassan, Salah A. Elmalik, Abdulmajeed AlDrees, Richard J. Rodenburg, Mohammed Al-Owain, Roman Chrast, Hamid Azzedine, Hisham Alkhalidi, Joachim Weis, Emeline Mundwiller, Istvan Katona, Thomas M. Bosley, Arif O. Khan
Publikováno v:
PLoS ONE, Vol 8, Iss 11 (2013)
PLoS ONE
PLoS ONE
There were errors in the Funding section. The correct funding information is as follows: MAS and co-authors are thankful to the Deanship of Scientific Research, King Saud University, Riyadh, Saudi Arabia, for supporting the work through the research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637c57896c2f5d8e97b203c8d112a1d
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820829/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820829/?tool=EBI
Autor:
Hisham Alkhalidi, Hamdy H. Hassan, Emeline Mundwiller, Mohammed Al-Owain, Salah A. Elmalik, Thomas M. Bosley, Amal Y. Kentab, Richard J. Rodenburg, Roman Chrast, Abdulmajeed AlDrees, Mohammad M. Kabiraj, Michel Koenig, Hamad Al-Zaidan, Arif O. Khan, Giovanni Stevanin, Istvan Katona, Mustafa A. Salih, Hamid Azzedine, Joachim Weis
Publikováno v:
PLOS ONE 8(10), e76831 (2013). doi:10.1371/journal.pone.0076831
PLoS ONE
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Plos One, vol. 8, no. 10, pp. e76831
PLoS ONE
PLoS ONE, Vol 8, Iss 10, p e76831 (2013)
Plos One, vol. 8, no. 10, pp. e76831
PLoS one 8(10), e76831 (2013). doi:10.1371/journal.pone.0076831
Published by PLoS [u.a.], Lawrence, Kan.
Published by PLoS [u.a.], Lawrence, Kan.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562e27cd51f8d843ccd5fc7393a59b3e
https://publications.rwth-aachen.de/record/235779
https://publications.rwth-aachen.de/record/235779