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Hamid Azzedine

Showing results (11-20 of 21) with videos related to

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Gene|December 24, 2013
C19orf12 mutation leads to a pallido-pyramidal syndromeMichael C Kruer, Mustafa A Salih, Catherine Mooney, et al.
Human Genetics|February 3, 2007
A novel locus for autosomal recessive spastic ataxia on chromosome 17pNaima Bouslam, Ahmed Bouhouche, Ali Benomar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan Klebe, Alexandra Durr, Naima Bouslam, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.
Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.
Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.
Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Gene|December 24, 2013
C19orf12 mutation leads to a pallido-pyramidal syndromeMichael C Kruer, Mustafa A Salih, Catherine Mooney, et al.
Human Genetics|February 3, 2007
A novel locus for autosomal recessive spastic ataxia on chromosome 17pNaima Bouslam, Ahmed Bouhouche, Ali Benomar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan Klebe, Alexandra Durr, Naima Bouslam, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.
Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.
Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.
Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Pageof 3