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Neurology. Genetics

Showing results (501-510 of 842) with videos related to

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Neurology. Genetics|September 2, 2016
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)Chantal Depondt, Simona Donatello, Myriam Rai, et al.
Neurology. Genetics|August 31, 2016
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2ADavid S Lynch, Nicholas W Wood, Henry Houlden
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
Neurology. Genetics|May 16, 2019
HTT haplogroups in Finnish patients with Huntington diseaseSusanna Ylönen, Jussi O T Sipilä, Marja Hietala, et al.
Neurology. Genetics|May 2, 2019
Homozygous <i>TRPV4</i> mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.
Neurology. Genetics|May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Neurology. Genetics|March 7, 2022
Novel <i>SEPSECS</i> Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case ReportFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, et al.
Neurology. Genetics|August 13, 2019
Novel mutation in <i>HTRA1</i> in a family with diffuse white matter lesions and inflammatory featuresAmin Ziaei, Xiaohong Xu, Leila Dehghani, et al.
Neurology. Genetics|August 13, 2019
New family with <i>HSPB</i>8-associated autosomal dominant rimmed vacuolar myopathySejad Al-Tahan, Lan Weiss, Howard Yu, et al.
Neurology. Genetics|August 13, 2019
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohortsHirotaka Iwaki, Cornelis Blauwendraat, Hampton L Leonard, et al.
Pageof 85

Showing results (501-510 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|September 2, 2016
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)Chantal Depondt, Simona Donatello, Myriam Rai, et al.
Neurology. Genetics|August 31, 2016
Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2ADavid S Lynch, Nicholas W Wood, Henry Houlden
Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.
Neurology. Genetics|May 16, 2019
HTT haplogroups in Finnish patients with Huntington diseaseSusanna Ylönen, Jussi O T Sipilä, Marja Hietala, et al.
Neurology. Genetics|May 2, 2019
Homozygous <i>TRPV4</i> mutation causes congenital distal spinal muscular atrophy and arthrogryposisJose Velilla, Michael Mario Marchetti, Agnes Toth-Petroczy, et al.
Neurology. Genetics|May 2, 2019
Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZIlona Kalasova, Hana Hanzlikova, Neerja Gupta, et al.
Neurology. Genetics|March 7, 2022
Novel <i>SEPSECS</i> Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case ReportFrancesco Nicita, Lorena Travaglini, Francesco Bombelli, et al.
Neurology. Genetics|August 13, 2019
Novel mutation in <i>HTRA1</i> in a family with diffuse white matter lesions and inflammatory featuresAmin Ziaei, Xiaohong Xu, Leila Dehghani, et al.
Neurology. Genetics|August 13, 2019
New family with <i>HSPB</i>8-associated autosomal dominant rimmed vacuolar myopathySejad Al-Tahan, Lan Weiss, Howard Yu, et al.
Neurology. Genetics|August 13, 2019
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohortsHirotaka Iwaki, Cornelis Blauwendraat, Hampton L Leonard, et al.
Pageof 85