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Thomas Bourinaris

Showing results (1-10 of 16) with videos related to

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Movement Disorders Clinical Practice|January 15, 2019
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the LiteratureThomas Bourinaris, Henry Houlden
Gene|December 17, 2020
Some pathogenic SETX variants are partially conserved during evolutionHuma Tariq, Iqra Tariq, Thomas Bourinaris, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disordersThomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 7, 2019
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approachMuhammad Ilyas, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Klinische Padiatrie|April 8, 2021
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and MoroccoFarah Bibi, Asmat Ullah, Thomas Bourinaris, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 11, 2020
Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current dataDimitrios Rikos, Chrysoula Marogianni, Antonios Provatas, et al.
Journal of the Neurological Sciences|February 2, 2020
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegiaFarah Bibi, Stephanie Efthymiou, Thomas Bourinaris, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|April 28, 2020
Prevalence of <i>C9orf72</i> hexanucleotide repeat expansion in Greek patients with sporadic ALSMaria Sokratous, Schottlaender Lucia, Thomas Bourinaris, et al.
European Journal of Human Genetics : EJHG|September 16, 2020
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes ProjectThomas Bourinaris, Damian Smedley, Valentina Cipriani, et al.
Orphanet Journal of Rare Diseases|November 4, 2017
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegiaConceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Movement Disorders Clinical Practice|January 15, 2019
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the LiteratureThomas Bourinaris, Henry Houlden
Gene|December 17, 2020
Some pathogenic SETX variants are partially conserved during evolutionHuma Tariq, Iqra Tariq, Thomas Bourinaris, et al.
European Journal of Human Genetics : EJHG|April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disordersThomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 7, 2019
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approachMuhammad Ilyas, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Klinische Padiatrie|April 8, 2021
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and MoroccoFarah Bibi, Asmat Ullah, Thomas Bourinaris, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|August 11, 2020
Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current dataDimitrios Rikos, Chrysoula Marogianni, Antonios Provatas, et al.
Journal of the Neurological Sciences|February 2, 2020
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegiaFarah Bibi, Stephanie Efthymiou, Thomas Bourinaris, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|April 28, 2020
Prevalence of <i>C9orf72</i> hexanucleotide repeat expansion in Greek patients with sporadic ALSMaria Sokratous, Schottlaender Lucia, Thomas Bourinaris, et al.
European Journal of Human Genetics : EJHG|September 16, 2020
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes ProjectThomas Bourinaris, Damian Smedley, Valentina Cipriani, et al.
Orphanet Journal of Rare Diseases|November 4, 2017
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegiaConceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, et al.
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