Centro de documentación: resultados de la búsqueda

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

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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

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