Neurology® Genetics. vol. 11 n. 4

Neurology® Genetics. vol. 11 n. 4

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Neurology® Genetics

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2025

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More Than APOE: Genetic Predictors in Alzheimer Disease in APOEε3 Carriers.
Autor/s:
Peters N, Unschuld PG.
Editorial
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200284
Valosin-Containing Protein Multisystem Proteinopathy and Myopathology.
Autor/s:
Stenzel W, Goebel HH.
Editorial
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200290
Untangling Complexity in Dysferlinopathy With MRI Modeling of Disease Trajectory.
Autor/s:
Morrow JM.
Editorial
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200295
Article
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.
Autor/s:
Russell LL, Bouzigues A, Convery RS, Foster PH, Ferry-Bolder E, Cash DM, Van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Sánchez-Valle R, Laforce R Jr, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler C, Gerhard A,...
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200248
Article
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Autor/s:
Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo...
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200265
Article
Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition: Beyond APOE.
Autor/s:
Ramanan VK, Heckman MG, Hofrenning EI, Przybelski SA, Graff-Radford J, Lowe VJ, Machulda MM, Murray ME, Algeciras-Schimnich A, Figdore DJ, Bennett DA, Knopman DS, Jack CR Jr, Petersen RC, Ross OA, Vemuri P; Alzheimer's Disease Neuroimaging Initiative...
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200266
Article
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.
Autor/s:
Boettcher T, Beetz C, Schulze D, Saravanakumar D, Zonic E, Schroeder S, Kaune A, Oppermann S, Paknia O, Basto JP, Bauer P.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200271
Article
Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.
Autor/s:
Musilova A, Lassuthova P, Uhrova Meszarosova A, Straka B, Krejcikova J, Berounska A, Vlckova M, Musova Z, Safka Brozkova D.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200272
Article
Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex.
Autor/s:
Li J, El Haffaf Z, Lattouf JB, Major P, Keezer MR.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200275
Article
Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex.
Autor/s:
Balthazard R, Li J, Loubert F, Drouin-Engler RM, Boisclair M, Coquelet P, Nguyen A, Rebillard RM, Arbour N, Major P, House AA, Larochelle C, Keezer MR.
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200276
Article
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Autor/s:
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200277
Article
Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.
Autor/s:
Yang YL, Lee HF, Chi CS, Tsai CR, Liu SN, Wu PY.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200280
Article
Mosaic Ring 20 Syndrome: A Meta-Analysis.
Autor/s:
Woodson S, James WD, Roth R, Barbieri JS, Ershadi S, Cheng D, Fitzgerald MP.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200282
Article
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.
Autor/s:
Bolano-Diaz CF, Reyngoudt H, Wilson IJ, James MK, Smith FE, Caldas de Almeida Araujo E, Gordish-Dressman H, Hilsden H, Rufibach LE, Wallace D, Ward L, Stramare R, Rampado A, Smith M, Boisserie JM, Le Louer J, Foster S, Peduto A, Sato N, Tamaru T, Sawyer AM, Day JW, Jones KJ, Walter MC, Stojkovic T...
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200283
Article
Longitudinal Changes of Motor Function in Becker Muscular Dystrophy.
Autor/s:
Bello L, Riguzzi P, Capece G, Penzo M, Petrosino A, Sogus E, Mastellaro S, Caroli M, Villa M, Sabbatini D, Gorgoglione D, Vianello S, Sorarù G, Pegoraro E.
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200285
The Association Between Sleep Phenotypes and Epilepsy Genes.
Autor/s:
Gaillard JR, Gupta G, Mefford HC, O'Brien LM, Shellhaas RA, Dang LT...
Clinical/Scientific Notes
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2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200269
Correction
Correction for: Messing A, Waldman AT, Bolt DM. Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease. Neurol Genet. 2025 Jun 5;11(3):e200270. doi: 10.1212/NXG.0000000000200270. PMID: 40520824
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200296
v
Correction & Replacement: Heath A, McNerney MW, Yesavage J. Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease. Neurol Genet. 2025 Feb 14;11(2):e200241. doi: 10.1212/NXG.0000000000200241. PMID: 39980902
Any publicació:
2025
Número de revista:
Neurology® Genetics. vol. 11 n. 4
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200274

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Neurology® Genetics. vol. 11 n. 4

Neurology® Genetics. vol. 11 n. 4

En aquest número

More Than APOE: Genetic Predictors in Alzheimer Disease in APOEε3 Carriers.

Valosin-Containing Protein Multisystem Proteinopathy and Myopathology.

Untangling Complexity in Dysferlinopathy With MRI Modeling of Disease Trajectory.

Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Combating Genetic Heterogeneity for Polygenic Prediction of Susceptibility to Brain β-Amyloid Deposition: Beyond APOE.

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease.

Diagnostic Accuracy of Clinical Manifestations in Identifying People With Tuberous Sclerosis Complex.

Blood Biomarkers to Identify Renal Angiomyolipomas in People With Tuberous Sclerosis Complex.

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Refining the Phenotypic and Genotypic Spectrum of WDR73-Related Galloway-Mowat Syndrome: A Case Series and Systematic Review.

Mosaic Ring 20 Syndrome: A Meta-Analysis.

Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis.

Longitudinal Changes of Motor Function in Becker Muscular Dystrophy.

The Association Between Sleep Phenotypes and Epilepsy Genes.

Correction

v

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