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Neurogenetics

Showing results (201-210 of 1,080) with videos related to

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Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Neurogenetics|May 5, 2023
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric geneViviana Tritto, Federico Grilli, Donatella Milani, et al.
Neurogenetics|June 1, 2023
Response to a letter to the editorJeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Neurogenetics|May 24, 2023
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30Mariana Santos, João Massano, Alexandra Manuel Lopes, et al.
Neurogenetics|January 27, 2015
Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disabilityDenis A Akkad, Barbara Bellenberg, Sarika Esser, et al.
Neurogenetics|May 28, 2014
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndromeSuna Lahut, David Vadasz, Candan Depboylu, et al.
Neurogenetics|November 7, 2012
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseasesLarissa Arning, Jörg T Epplen, Elisa Rahikkala, et al.
Neurogenetics|August 16, 2022
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutationMustafa Jaffry, Soumya Bouchachi, Mohsen Ahmed, et al.
Neurogenetics|August 3, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disordersAmytice Mirchi, Alexa Derksen, Luan T Tran, et al.
Neurogenetics|June 6, 2020
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestationsMatthew Tanti, Diane Cairns, Nasir Mirza, et al.
Pageof 108

Showing results (201-210 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Neurogenetics|May 5, 2023
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric geneViviana Tritto, Federico Grilli, Donatella Milani, et al.
Neurogenetics|June 1, 2023
Response to a letter to the editorJeanne Jury, Mathilde Nizon, Benjamin Cogné, et al.
Neurogenetics|May 24, 2023
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30Mariana Santos, João Massano, Alexandra Manuel Lopes, et al.
Neurogenetics|January 27, 2015
Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disabilityDenis A Akkad, Barbara Bellenberg, Sarika Esser, et al.
Neurogenetics|May 28, 2014
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndromeSuna Lahut, David Vadasz, Candan Depboylu, et al.
Neurogenetics|November 7, 2012
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseasesLarissa Arning, Jörg T Epplen, Elisa Rahikkala, et al.
Neurogenetics|August 16, 2022
Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutationMustafa Jaffry, Soumya Bouchachi, Mohsen Ahmed, et al.
Neurogenetics|August 3, 2022
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disordersAmytice Mirchi, Alexa Derksen, Luan T Tran, et al.
Neurogenetics|June 6, 2020
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestationsMatthew Tanti, Diane Cairns, Nasir Mirza, et al.
Pageof 108