检索结果 - Mohammad M. Kabiraj
- Showing 1 - 5 results of 5
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1
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia 由 Mirna Assoum, Mustafa A. Salih, Nathalie Drouot, Dorra H’mida-Ben Brahim, Clotilde Lagier‐Tourenne, Abdulmajeed AlDrees, Salah A. Elmalik, Taha S. Ahmed, Mohammad Z Seidahmed, Mohammad M. Kabiraj, M. Kœnig
出版 2010Artigo -
2
New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations 由 Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al‐Owain, Hisham Alkhalidi, István Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, M. Kœnig, Giovanni Stévanin, Hamid Azzedine
出版 2013Artigo -
3
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes 由 Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez, Mustafa A. Salih, Mohammad M. Kabiraj, Adele D’Amico, Enrico Bertini, Joachim Wölfle, Felix Schreiner, Gerhard Kurlemann, Vedrana Milić Rašić, Dana Šišková, J. Colomer, Ágnes Herczegfalvi, Katarina Fabriciova, Bernhard Weschke, Rosana Hermínia Scola, Friederike Hoellen, Ulrike Schara, Angela Abicht, Hanns Lochmüller
出版 2008Artigo -
4
<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy 由 Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco M. Lasorsa, Princess C. Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Hill, Kutay Deniz Atabay, Brenda J. Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. Kabiraj, Sanjeev V. Kothare, Tommy Stödberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh
出版 2013Artigo -
5
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia 由 Christelle Tesson, Magdalena Nawara, Mustafa A. Salih, Rodrigue Rossignol, Maha S. Zaki, Mohammed Al Balwi, Rebecca Schüle, Cyril Mignot, Émilie Obre, Ahmed Bouhouche, Filippo M. Santorelli, Christelle Durand, Andrés Caballero-Oteyza, Khalid H. El-Hachimi, Abdulmajeed Al Drees, Naïma Bouslam, Foudil Lamari, Salah A. Elmalik, Mohammad M. Kabiraj, Mohammed Zain Seidahmed, Typhaine Esteves, Marion Gaussen, Marie-Lorraine Monin, Gàbor Gyapay, Doris Lechner, Michael Gonzalez, Christel Depienne, Fanny Mochel, Julie Lavie, Lüdger Schöls, Didier Lacombe, Mohamed Yahyaoui, Ibrahim Al Abdulkareem, Stephan Züchner, Atsushi Yamashita, Ali Benomar, Cyril Goizet, Alexandra Dürr, Joseph G. Gleeson, Frédéric Darios, Alexis Brice, Giovanni Stévanin
出版 2012Artigo
相关主题
Biology
Gene
Genetics
Mutation
Neuroscience
Medicine
Ataxia
Phenotype
Acetylcholinesterase
Atrophy
Biochemistry
Bioenergetics
Cerebellar ataxia
Complex partial seizures
Congenital myasthenic syndrome
Diacylglycerol kinase
Disease
Disease gene identification
Enzyme
Epilepsy
Exome sequencing
Frataxin
Hereditary spastic paraplegia
Internal medicine
Iron-binding proteins
Locus (genetics)
Mitochondrial DNA
Mitochondrion
Muscle weakness
Mutant