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Neurogenetics

Showing results (661-670 of 949) with videos related to

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Neurogenetics|January 31, 2014
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothersLaura Siri, Andrea Rossi, Federica Lanza, et al.
Neurogenetics|July 25, 2015
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementiaMuhammad Ikram Ullah, Arsalan Ahmad, Syed Irfan Raza, et al.
Neurogenetics|August 26, 2025
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individualsLottie D Morison, Nuala Summerfield, Dana Bradley, et al.
Neurogenetics|December 26, 2025
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic testHamna Batool Hashmi, Muhammad Muzammal, Aiman Saleem, et al.
Neurogenetics|January 7, 2026
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS geneEwa Juścińska, Karolina Gadzalska, Paulina Jakiel, et al.
Neurogenetics|May 8, 2020
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical painRoel R I van Reij, Jan Willem Voncken, Elbert A J Joosten, et al.
Neurogenetics|April 20, 2020
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorderPınar Gelener, Mariasavina Severino, Sevda Diker, et al.
Neurogenetics|February 13, 2023
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPBAlice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, et al.
Neurogenetics|December 11, 2025
Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of lifeStefania Della Vecchia, Alessandro Simonati, Maria Laura Manca, et al.
Neurogenetics|December 6, 2025
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32Jiaxuan Yang, Yonglin Yu, Hongfang Jiang, et al.
Pageof 95

Showing results (661-670 of 949) with videos related to

Sort By:
Pageof 95
Neurogenetics|January 31, 2014
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothersLaura Siri, Andrea Rossi, Federica Lanza, et al.
Neurogenetics|July 25, 2015
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementiaMuhammad Ikram Ullah, Arsalan Ahmad, Syed Irfan Raza, et al.
Neurogenetics|August 26, 2025
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individualsLottie D Morison, Nuala Summerfield, Dana Bradley, et al.
Neurogenetics|December 26, 2025
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic testHamna Batool Hashmi, Muhammad Muzammal, Aiman Saleem, et al.
Neurogenetics|January 7, 2026
Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS geneEwa Juścińska, Karolina Gadzalska, Paulina Jakiel, et al.
Neurogenetics|May 8, 2020
Polygenic risk scores indicates genetic overlap between peripheral pain syndromes and chronic postsurgical painRoel R I van Reij, Jan Willem Voncken, Elbert A J Joosten, et al.
Neurogenetics|April 20, 2020
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorderPınar Gelener, Mariasavina Severino, Sevda Diker, et al.
Neurogenetics|February 13, 2023
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPBAlice AbdelAleem, Naim Haddad, Ghada Al-Ettribi, et al.
Neurogenetics|December 11, 2025
Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of lifeStefania Della Vecchia, Alessandro Simonati, Maria Laura Manca, et al.
Neurogenetics|December 6, 2025
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32Jiaxuan Yang, Yonglin Yu, Hongfang Jiang, et al.
Pageof 95