Neurology® Genetics. vol. 7 n. 2

Neurology® Genetics. vol. 7 n. 2

Volumen:

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Neurology® Genetics

Año publicación:

2021

En este número

Artículo
Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes
Autor/es:
Alfradique-Dunham I, Al-Ouran R, von Coelln R, Blauwendraat C, Hill E, Luo L, Stillwell A, Young E, Kaw A, Tan M, Liao C, Hernandez D, Pihlstrom L, Grosset D, Shulman LM, Liu Z, Rouleau GA, Nalls M, Singleton AB, Morris H, Jankovic J, Shulman JM
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e557
Editorial
Race and Alzheimer Disease Biomarkers. A Neglected Race
Autor/es:
Lleó A, Suárez-Calvet M
Editorial
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e574
Artículo
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
Autor/es:
Smits DJ, Schot R, Wilke M, van Slegtenhorst M, de Wi MCY, Dremmen MHG, Dobyns WB, Barkovich AJ, Mancini GMS
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e558
Artículo
LBSL. Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations
Autor/es:
Stellingwerff MD, Figuccia S, Bellacchio E, Alvarez K, Castiglioni C, Topaloglu P, Stutterd CA, Erasmus CE, Sanchez‐Valle A, Lebon S, Hughes S, Schmitt-Mechelke T, Vasco G, Chow G, Rahikkala E, Dallabona C, Okuma C, Aiello C, Goffrini P, Abbink TEM, Bertini ES, der Knaap MSV
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e559
Artículo
Polygenic Risk Scores Augment Stroke Subtyping
Autor/es:
Li J, Chaudhary DP, Khan A, Griessenauer C, Carey DJ, Zand R, Abedi V
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e560
Artículo
Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread
Autor/es:
Marinari E, Dutoit V, Nikolaev S, Vargas MI, Schaller K, Lobrinus JA, Dietrich PY, Tsantoulis P, Migliorini D
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e561
Artículo
Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease
Autor/es:
Pandey JP, Nietert PJ, Kothera RT, Barnes LL, Bennett DA
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e565
Artículo
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy
Autor/es:
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e566
Artículo
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report
Autor/es:
Teunissen MWA, Kamsteeg EJ, Sallevelt SCEH, Pennings M, Bauer NJC, Vermeulen RJ, Nicolai J
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e564
Artículo
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
Autor/es:
Palma JA, Yadav R, Gao D, Norcliffe-Kaufmann L, Slaugenhaupt S, Kaufmann H
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e568
Artículo
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
Autor/es:
Wenninger S, Cumming SA, Gutschmidt K, Okkersen K, Jimenez-Moreno AC, Daidj F, Lochmüller H, Hogarth F, Knoop H, Bassez G, Monckton DG, van Engelen BGM, Schoser B
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e572
Artículo
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
Autor/es:
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
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e571
Artículo
Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
Autor/es:
Estevez-Fraga C, Magrinelli F, Moss DH, Mulroy E, Di Lazzaro G, Latorre A, Mackenzie M, Houlden H, Tabrizi SJ, Bhatia KP
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e575
Artículo
Cumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based Cohort
Autor/es:
Bakulski KM, Vadari HS, Faul JD, Heeringa SG, Kardia SLR, Langa KM, Smith JA, Manly JJ, Mitchell CM, Benke KS, Ware EB
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e576
Artículo
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin
Autor/es:
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
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e578
Artículo
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder
Autor/es:
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
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e579
Artículo
Neurocognitive Features of Motor Premanifest Individuals With Myotonic Dystrophy Type 1
Autor/es:
van der Plas E, Koscik TR, Magnotta V, Cumming SA, Monckton D, Gutmann L, Nopoulos P
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e577
Artículo
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
Autor/es:
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
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e562
Artículo
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
Autor/es:
Filho FMR, Palma MM, Pedroso JL, Barsottini OG, Sallum JM
Clinical/Scientific Notes
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e563
Artículo
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene
Autor/es:
Nwebube C, Bulancea S, Marchidann A, Bello-Espinosa L, Treidler S
Clinical/Scientific Notes
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e570
Artículo
U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene
Autor/es:
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
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e573
Artículo
Correction
Correction for: Paucar M, Ågren R, Li T, Lissmats S, Bergendal Å, Weinberg J, Nilsson D, Savichetva I, Sahlholm K, Nilsson J, Svenningsson P. V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations. Neurol Genet 2021;7(1):e546; DOI: 10.1212/NXG.0000000000000546
Año publicación:
2021
Número de revista:
Neurology® Genetics. vol. 7 n. 2
https://ng.neurology.org/content/7/2/e567

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Neurology® Genetics. vol. 7 n. 2

Neurology® Genetics. vol. 7 n. 2

En este número

Genome-Wide Association Study Meta-Analysis for Parkinson Disease Motor Subtypes

Race and Alzheimer Disease Biomarkers. A Neglected Race

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

LBSL. Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations

Polygenic Risk Scores Augment Stroke Subtyping

Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread

Interactive Effects of HLA and GM Alleles on the Development of Alzheimer Disease

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

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

Correction

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