Neurology® Genetics. vol. 10 n. 1

Neurology® Genetics. vol. 10 n. 1

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Neurology® Genetics

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2024

En aquest número

Metabolic Malfunction Mars Muscle Mitochondria
Autor/s:
Guido Primiano IH
Editorial
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200126
Article
Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program.
Autor/s:
Pankratz N, Cole BR, Beutel KM, Liao KP, Ashe J.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200110
Article
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.
Autor/s:
Ryan M, Doherty MA, Al Khleifat A, Costello E, Hengeveld JC, Heverin M, Al-Chalabi A, Mclaughlin RL, Hardiman O.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200112
Article
Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease.
Autor/s:
Park M, Lee YG.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200115
Article
Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease Endophenotypes.
Autor/s:
Gunter NB, Gebre RK, Graff-Radford J, Heckman MG, Jack CR Jr, Lowe VJ, Knopman DS, Petersen RC, Ross OA, Vemuri P, Ramanan VK; Alzheimer's Disease Neuroimaging Initiative...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200120
Article
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Autor/s:
Baskar D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Töpf A, Thomas A, Sanka SB, Menon D, Srivastava K, Arunachal G, Nandeesh BN, Lochmüller H, Nalini A.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200122
Article
A 3′UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP
Autor/s:
Chemparathy A, Le Guen Y, Zeng Y, Gorzynski J, Jensen TD, Yang C, Kasireddy N, Talozzi L, Belloy M, Stewart I, Gitler AD, Wagner AD, Mormino E, Henderson VW, Wyss-Coray T, Ashley E, Cruchaga C, Greicius MD.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200124
Large-Scale Whole-Genome Analysis of HTLV-1–Associated Myelopathy Identified Hereditary Spastic Paraplegias
Autor/s:
Takao N, Yagishita N, Araya N, Aratani S, Yamauchi J, Takahashi K, Kunitomo Y, Sato T, Nakamori M, Kawai Y, Omae Y, Tokunaga K, Matsuda F, Mitsuhashi S, Yamano Y.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200108
Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.
Autor/s:
Elbert A, Dixon K, Shen Y, Hamilton S, Boerkoel CF, Jones SJ, Kanungo AK.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200114
Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies.
Autor/s:
Lee CG, Kim HJ, Seol CA, Ki CS.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200116
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.
Autor/s:
Phillips HW, D'Gama AM, Wang Y, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang AY, Poduri A, Stone SS, Walsh CA...
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200117
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).
Autor/s:
Foucard C, Belley M, Sangare A, Bonnet C, Renaud M, Roze E.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200118
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination.
Autor/s:
Sun H, Wang Y, Wang Y, Zeng F.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200119
Article
Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations.
Autor/s:
Ayata C, Kim H, Morrison L, Liao JK, Gutierrez J, Lopez-Toledano M, Carrazana E, Rabinowicz AL, Awad IA.
Review
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200121
Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI.
Autor/s:
Dulski J, Middlebrooks EH, Wszolek ZK.
NeuroImage
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200125
Correction
Correction for: Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F,...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200123
Correction
Correction for: Barberio J, Lally C, Kupelian V, Hardiman O, Flanders WD. Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-Analysis. Neurol Genet. 2023 Nov 30;9(6):e200109. doi: 10.1212/NXG.0000000000200109. PMID: 38045991
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200131

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Neurology® Genetics. vol. 10 n. 1

Neurology® Genetics. vol. 10 n. 1

En aquest número

Metabolic Malfunction Mars Muscle Mitochondria

Parkinson Disease Genetics Extended to African and Hispanic Ancestries in the VA Million Veteran Program.

C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.

Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease.

Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease Endophenotypes.

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.

A 3′UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated With Increased Risk for FTLD-TDP

Large-Scale Whole-Genome Analysis of HTLV-1–Associated Myelopathy Identified Hereditary Spastic Paraplegias

Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies.

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology.

Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).

Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination.

Role of Rho-Associated Kinase in the Pathophysiology of Cerebral Cavernous Malformations.

Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI.

Correction

Correction

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