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Neurology. Genetics

Showing results (301-310 of 1,012) with videos related to

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Neurology. Genetics|November 7, 2024
Early Peripheral Nerve Involvement at the Time of Coughing in Patients With <i>RFC1</i> Intronic ExpansionSimon Frachet, Pauline Chazelas, Laurent Magy, et al.
Neurology. Genetics|November 6, 2024
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying <i>SOD1</i> Variants Revealed Phenotypic Differences for Common VariantsAyumi Nishiyama, Tetsuya Niihori, Naoki Suzuki, et al.
Neurology. Genetics|September 11, 2024
Blended Phenotype of <i>NOTCH3</i> and <i>RNF213</i> Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature ReviewSatoshi Saito, Satoshi Hosoki, Eriko Yamaguchi, et al.
Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Neurology. Genetics|February 28, 2025
Association of <i>DMD</i> Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial SettingYuan Fang, Utkarsh J Dang, Katherine I Illei, et al.
Neurology. Genetics|February 25, 2025
The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic ResourcesAllison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, et al.
Neurology. Genetics|August 12, 2024
Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Neurology. Genetics|January 23, 2023
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob DiseaseAlexander G Murley, Yu Nie, Zoe Golder, et al.
Neurology. Genetics|January 16, 2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem ProteinopathyAlyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, et al.
Neurology. Genetics|November 20, 2019
Homozygous pathogenic variant in <i>BRAT1</i> associated with nonprogressive cerebellar ataxiaAreej Mahjoub, Zuzana Cihlarova, Martine Tétreault, et al.
Pageof 102

Showing results (301-310 of 1,012) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|November 7, 2024
Early Peripheral Nerve Involvement at the Time of Coughing in Patients With <i>RFC1</i> Intronic ExpansionSimon Frachet, Pauline Chazelas, Laurent Magy, et al.
Neurology. Genetics|November 6, 2024
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying <i>SOD1</i> Variants Revealed Phenotypic Differences for Common VariantsAyumi Nishiyama, Tetsuya Niihori, Naoki Suzuki, et al.
Neurology. Genetics|September 11, 2024
Blended Phenotype of <i>NOTCH3</i> and <i>RNF213</i> Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature ReviewSatoshi Saito, Satoshi Hosoki, Eriko Yamaguchi, et al.
Neurology. Genetics|February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity AssaySilvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Neurology. Genetics|February 28, 2025
Association of <i>DMD</i> Gene Variant Classes With Motor Outcomes in a Drug Registration Clinical Trial SettingYuan Fang, Utkarsh J Dang, Katherine I Illei, et al.
Neurology. Genetics|February 25, 2025
The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic ResourcesAllison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, et al.
Neurology. Genetics|August 12, 2024
Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental DisorderMichael S Hildebrand, Ruth O Braden, Mariana L Lauretta, et al.
Neurology. Genetics|January 23, 2023
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob DiseaseAlexander G Murley, Yu Nie, Zoe Golder, et al.
Neurology. Genetics|January 16, 2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem ProteinopathyAlyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, et al.
Neurology. Genetics|November 20, 2019
Homozygous pathogenic variant in <i>BRAT1</i> associated with nonprogressive cerebellar ataxiaAreej Mahjoub, Zuzana Cihlarova, Martine Tétreault, et al.
Pageof 102