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Neurology. Genetics

Showing results (731-740 of 842) with videos related to

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Neurology. Genetics|April 29, 2016
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.
Neurology. Genetics|April 29, 2016
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopiaClaire S Leblond, Alina Webber, Ziv Gan-Or, et al.
Neurology. Genetics|April 29, 2016
Spinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, et al.
Neurology. Genetics|June 9, 2016
Mutation of TBCK causes a rare recessive developmental disorderRita J Guerreiro, Rachel Brown, Donnai Dian, et al.
Neurology. Genetics|May 10, 2016
FTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, et al.
Neurology. Genetics|September 16, 2017
<i>IBA57</i> mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathyAkihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.
Neurology. Genetics|November 19, 2020
Heterozygous variants in <i>DCC</i>: Beyond congenital mirror movementsSebastian Thams, Mominul Islam, Marie Lindefeldt, et al.
Neurology. Genetics|November 2, 2020
Matrix metalloproteinase-degraded type I collagen is associated with <i>APOE/TOMM40</i> variants and preclinical dementiaMan-Hung Eric Tang, Joseph P M Blair, Cecilie Liv Bager, et al.
Neurology. Genetics|November 2, 2020
<i>POLR1C</i> variants dysregulate splicing and cause hypomyelinating leukodystrophyHitoshi Kashiki, Heng Li, Sachiko Miyamoto, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Pageof 85

Showing results (731-740 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|April 29, 2016
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.
Neurology. Genetics|April 29, 2016
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopiaClaire S Leblond, Alina Webber, Ziv Gan-Or, et al.
Neurology. Genetics|April 29, 2016
Spinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, et al.
Neurology. Genetics|June 9, 2016
Mutation of TBCK causes a rare recessive developmental disorderRita J Guerreiro, Rachel Brown, Donnai Dian, et al.
Neurology. Genetics|May 10, 2016
FTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, et al.
Neurology. Genetics|September 16, 2017
<i>IBA57</i> mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathyAkihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.
Neurology. Genetics|November 19, 2020
Heterozygous variants in <i>DCC</i>: Beyond congenital mirror movementsSebastian Thams, Mominul Islam, Marie Lindefeldt, et al.
Neurology. Genetics|November 2, 2020
Matrix metalloproteinase-degraded type I collagen is associated with <i>APOE/TOMM40</i> variants and preclinical dementiaMan-Hung Eric Tang, Joseph P M Blair, Cecilie Liv Bager, et al.
Neurology. Genetics|November 2, 2020
<i>POLR1C</i> variants dysregulate splicing and cause hypomyelinating leukodystrophyHitoshi Kashiki, Heng Li, Sachiko Miyamoto, et al.
Neurology. Genetics|November 2, 2020
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesisFlorentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, et al.
Pageof 85