Neurology® Genetics. vol. 8 n. 5

Neurology® Genetics. vol. 8 n. 5

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Neurology® Genetics

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2022

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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
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
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
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis: A 15-Year Follow-up Study
Autor/s:
Okazaki S, Yoshimoto T, Ohara M, Takagaki M, Nakamura H, Watanabe K, Gon Y, Todo K, Sasaki T, Araki H, Yamada T, Manabe S, Kishima H, Ihara M, Mochizuki H
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200029
Article
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.
Autor/s:
Matoba K, Chihara N, Satake W, Tokuoka H, Otsuka Y, Ueda T, Sekiguchi K, Itoh M, Matsumoto R.
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200031
Article
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study
Autor/s:
Barbora Straka, Barbora Hermanovska, Lenka Krskova, Josef Zamecnik, Marketa Vlckova, Miroslava Balascakova, Pavel Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200032
A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.
Autor/s:
Palombo F, La Morgia C, Fiorini C, Caporali L, Valentino ML, Donadio V, Liguori R, Carelli V.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200004
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease-like Vascular Formation Associated With RNF213 p.R4810K Variant
Autor/s:
Ikeuchi Y, Kitayama J, Sahara N, Okata T, Miyake N, Matsumoto N, Kitazono T, Ago T.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://siidon.guttmann.com/ca/v
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy.
Autor/s:
Solazzi R, Moscatelli M, Sebastiano DR, Canafoglia L, Pezzoli L, Iascone M, Granata T.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200022
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.
Autor/s:
Kuroha Y, Ishiguro T, Tada M, Hara N, Murayama K, Kawachi I, Kasuga K, Miyashita A, Hasegawa A, Takahashi T, Matsubara N, Onodera O, Kakita A, Koike R, Ikeuchi T.
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200030
Article de revisió
RFC1-Related Disease: Molecular and Clinical Insights.
Autor/s:
Davies K, Szmulewicz DJ, Corben LA, Delatycki M, Lockhart PJ.
Review
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200016
Article de revisió
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy.
Autor/s:
Roberts LJ, McVeigh M, Seiderer L, Harding IH, Corben LA, Delatycki M, Szmulewicz DJ.
Review
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200021
3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy.
Autor/s:
Benzoni C, Magri S, Moscatelli M, Fenu S, Caccia C, Taroni F, Salsano E, Di Bella D.
NeuroImage
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200023
Correction
Correction fo r: Breevoort S, Gibson S, Figueroa K, Bromberg M, Pulst S. Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic Strategies: A Review. Neurol Genet. 2022;8(3):e670. doi: 10.1212/NXG.0000000000000670. PMID: 35620137
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200028
Correction
Correction for : Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T,...
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 5
https://ng.neurology.org/content/8/5/e200035

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Neurology® Genetics. vol. 8 n. 5

Neurology® Genetics. vol. 8 n. 5

En aquest número

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

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

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

Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis: A 15-Year Follow-up Study

Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia.

Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease-like Vascular Formation Associated With RNF213 p.R4810K Variant

Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy.

Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy.

RFC1-Related Disease: Molecular and Clinical Insights.

Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy.

3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy.

Correction

Correction

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