Centre de documentació: resultats de cerca

Article
Downbeat Nystagmus Is Abolished by Alcohol in Nonalcoholic Wernicke Encephalopathy
Autor/s:
Helmchen C, Machner B, von der Gablentz J, Sprenger A, Zee DS
Cases
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 5
https://cp.neurology.org/content/12/5/e129
Article
A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results.
Autor/s:
Jensen-Roberts S, Myers TL, Auinger P, Cannon P, Rowbotham HM, Coker D, Chanoff E, Soto J, Pawlik M, Amodeo K, Sharma S, Valdovinos B, Wilson R, Sarkar A, McDermott MP, Alcalay RN, Biglan K, Kinel D, Tanner C, Winter-Evans R, Augustine EF, Holloway RG, Dorsey ER, Schneider RB.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200008
Article
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.
Autor/s:
Grassano M, Brodini G, De Marco G, Casale F, Fuda G, Salamone P, Brunetti M, Sbaiz L, Gallone S, Cugnasco P, Bombaci A, Vasta R, Manera U, Canosa A, Moglia C, Calvo A, Traynor BJ, Chio A.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200011
Article
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data.
Autor/s:
Belloy ME, Le Guen Y, Eger SJ, Napolioni V, Greicius MD, He Z.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200012
Article
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Autor/s:
Tzagournissakis M, Foukarakis E, Samonakis D, Tsilimbaris M, Michaelidou K, Mathioudakis L, Marinis A, Giannakoudakis E, Spanaki C, Skoula I, Erimaki S, Amoiridis G, Koutsis G, Koukouraki S, Stylianou K, Plaitakis A, Mitsias PD, Zaganas I
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200013
Article
Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations.
Autor/s:
Ryan DK, Karhunen V, Su B, Traylor M, Richardson TG, Burgess S, Tzoulaki I, Gill D.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200014
Article
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.
Autor/s:
Ferguson AC, Thrippleton S, Henshall D, Whittaker E, Conway B, MacLeod M, Malik R, Rawlik K, Tenesa A, Sudlow C, Rannikmae K.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200015
Article
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
Autor/s:
Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung, Poduri Annapurna, Elliott H. Sherr
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200018
Article
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Autor/s:
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Klabunde-Cherwon A, Kluger G, Muhle H, Pendziwiat M, Møller RS, Platzer K, Santos JL, Schröter J, Hoffmann GF, Kölker S, Syrbe S.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200020
Article
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Autor/s:
Setlere S, Jurcenko M, Gailite L, Rots D, Kenina V.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200019

Una iniciativa de:

Cercador

Downbeat Nystagmus Is Abolished by Alcohol in Nonalcoholic Wernicke Encephalopathy

A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results.

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis.

A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data.

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.

Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations.

Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants.

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.

Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.

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