Centre de documentació: resultats de cerca

Article
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
Autor/s:
Schindler SE, Cruchaga C, Joseph A, McCue L, Farias FHG, Wilkins CH, Deming Y, Henson RL, Mikesell RJ, Piccio L, Llibre-Guerra JJ, Moulder KL, Fagan AM, Ances BM, Benzinger TLS, Xiong C, Holtzman DM, Morris JC
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e571
Article
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
Autor/s:
Estevez-Fraga C, Magrinelli F, Moss DH, Mulroy E, Di Lazzaro G, Latorre A, Mackenzie M, Houlden H, Tabrizi SJ, Bhatia KP
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e575
Article
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
Autor/s:
Bakulski KM, Vadari HS, Faul JD, Heeringa SG, Kardia SLR, Langa KM, Smith JA, Manly JJ, Mitchell CM, Benke KS, Ware EB
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e576
Article
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Autor/s:
Wilf-Yarkoni A, Shor O, Fellner A, Hellmann MA, Pras E, Yonath H, Shkedi-Rafid S, Basel-Salmon L, Bazak L, Eliahou R, Greenbaum L, Stiebel-Kalish H, Benninger F, Goldberg Y
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e578
Article
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Autor/s:
Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e579
Article
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
Autor/s:
van der Plas E, Koscik TR, Magnotta V, Cumming SA, Monckton D, Gutmann L, Nopoulos P
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e577
Article
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
Autor/s:
Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e562
Article
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
Autor/s:
Filho FMR, Palma MM, Pedroso JL, Barsottini OG, Sallum JM
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e563
Article
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
Autor/s:
Nwebube C, Bulancea S, Marchidann A, Bello-Espinosa L, Treidler S
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e570
Article
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
Autor/s:
Sferruzza G, del Bondio A, Citterio A, Vezzulli P, Guerrieri S, Radaelli M, Martinelli Boneschi F, Filippi M, Maltecca F, Bassi MT, Scarlato M
Clinical/Scientific Notes
Any publicació:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e573

Una iniciativa de:

Cercador

African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants

Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions

Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations

PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women

Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

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