Výsledky vyhledávání - "Mohammad M Kabiraj"

Akademický článek

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

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

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Neurological Disorders in the Neonate

Autor: Abdalla Ali Abdalla, Mohamed Osman Eltahir Babiker, Mohammad M. Kabiraj

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

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Childhood and Adolescent Epileptic Syndromes

Autor: Mustafa A. Salih, Imad Y. Saadeldin, Mohammad M. Kabiraj

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

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C19orf12 mutation leads to a pallido-pyramidal syndrome

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

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Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

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

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

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