Neurology® Genetics. vol. 9 n. 1

Neurology® Genetics. vol. 9 n. 1

Volumen:

Veure revista:

Neurology® Genetics

Any publicació:

2023

En aquest número

Article
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy
Autor/s:
Shmara A, Gibbs L, Mahoney RP, Hurth K, Goodwill VS, Cuber A, Im R, Pizzo DP, Brown J, Laukaitis C, Mahajan S, Kimonis V.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200037
Article
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia
Autor/s:
Amprosi M, Indelicato E, Eigentler A, Fritz J, Nachbauer W, Boesch S.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200052
Article
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
Autor/s:
Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Loreto Sampaio M, Melkus G, Woulfe J, Parmar G, Bourque PR, Breiner A, Zwicker J, Pringle CE, Jarinova O, Lochmüller H, Dyment DA, Brais B, Boycott KM, Hekimi S, Harper ME, Warman-Chardon J
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200048
Article
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia
Autor/s:
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200050
Article
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
Autor/s:
Murley AG, Nie Y, Golder Z, Keogh MJ, Smith C, Ironside JW, Chinnery PF.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200054
Article
Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum
Autor/s:
Qian J, Zhang Y, Betensky RA, Hyman BT, Serrano-Pozo A.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200055
Article
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
Autor/s:
Massey S, Guo Y, Riley LG, Van Bergen NJ, Sandaradura SA, McCusker E, Tchan M, Thauvin-Robinet C, Thomas Q, Moreau T, Davis M, Smits D, Mancini GMS, Hakonarson H, Cooper S, Christodoulou J.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200051
Article
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
Autor/s:
Moreno CAM, Artilheiro MC, Fonseca ATQSM, Camelo CG, de Medeiros GC, Sassi FC, de Andrade CRF, Donkervoort S, Silva AMS, Dalfior-Junior L, Abath-Neto OL, Reed UC, Bönnemann C, Zanoteli E.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200056
Article
Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults
Autor/s:
Hayes JP, Pierce ME, Brown E, Salat D, Logue MW, Constantinescu J, Valerio K, Miller MW, Sherva R, Huber BR, Milberg W, McGlinchey R.
Any publicació:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 1
https://ng.neurology.org/content/9/1/e200053

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Neurology® Genetics. vol. 9 n. 1

Neurology® Genetics. vol. 9 n. 1

En aquest número

Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy

Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease

Neuropathology-Independent Association Between APOE Genotype and Cognitive Decline Rate in the Normal Aging-Early Alzheimer Continuum

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

Clinical Manifestation of Nebulin-Associated Nemaline Myopathy

Genetic Risk for Alzheimer Disease and Plasma Tau Are Associated With Accelerated Parietal Cortex Thickness Change in Middle-Aged Adults

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