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Christos Proukakis

Showing results (51-60 of 64) with videos related to

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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases|September 18, 2003
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disordersAzlina Ahmad-Annuar, Paresh Shah, Majid Hafezparast, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
The Journal of Biological Chemistry|December 16, 2014
The H50Q mutation induces a 10-fold decrease in the solubility of α-synucleinRiccardo Porcari, Christos Proukakis, Christopher A Waudby, et al.
European Journal of Neurology|January 29, 2025
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's diseaseIoanna Alefanti, Christos Koros, Viktoria Tsami, et al.
JAMA Neurology|July 9, 2014
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlationsEleanna Kara, Aoife P Kiely, Christos Proukakis, et al.
Molecular Neurodegeneration|August 27, 2015
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutationAoife P Kiely, Helen Ling, Yasmine T Asi, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Plos Computational Biology|June 20, 2020
A crowdsourced set of curated structural variants for the human genomeLesley M Chapman, Noah Spies, Patrick Pai, et al.
Pageof 7

Showing results (51-60 of 64) with videos related to

Sort By:
Pageof 7
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases|September 18, 2003
No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disordersAzlina Ahmad-Annuar, Paresh Shah, Majid Hafezparast, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
The Journal of Biological Chemistry|December 16, 2014
The H50Q mutation induces a 10-fold decrease in the solubility of α-synucleinRiccardo Porcari, Christos Proukakis, Christopher A Waudby, et al.
European Journal of Neurology|January 29, 2025
The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's diseaseIoanna Alefanti, Christos Koros, Viktoria Tsami, et al.
JAMA Neurology|July 9, 2014
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlationsEleanna Kara, Aoife P Kiely, Christos Proukakis, et al.
Molecular Neurodegeneration|August 27, 2015
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutationAoife P Kiely, Helen Ling, Yasmine T Asi, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Nature Genetics|February 26, 2004
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeChristian Windpassinger, Michaela Auer-Grumbach, Joy Irobi, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Plos Computational Biology|June 20, 2020
A crowdsourced set of curated structural variants for the human genomeLesley M Chapman, Noah Spies, Patrick Pai, et al.
Pageof 7