Centre de documentació: resultats de cerca

Article
Novel VRK1 Variants and a Founder Effect in Axonal Polyneuropathy.
Autor/s:
Xu K, Zeng S, Li X, Li Z, Liu Y, Wang M, Xie Y, Liu L, Cao W, Huang S, Zhao H, Tang B, Zhang R.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200381
Article
Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.
Autor/s:
Groeneveld J, de Boer SCM, Krudop W, Ozhegov G, Hulsman M, Dols A, Kerssens CJ, Schouws S, Barkhof F, Holstege H, Pijnenburg YAL, Van Der Lee SJ, Duits FH.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200382
Article
Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation.
Autor/s:
Porcari GS, Rashid RN, Mulvihill CA, Beslow LA, Dubbs HA, Schindewolf EM, Kaufman MC, Gonzalez AK, Gebb JS, Agarwal S, Whitehead MT, Cristancho AG.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200386
Article
Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.
Autor/s:
Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200387
Article
Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy.
Autor/s:
Xu Y, Wang J, Chen Y, Zeng Y, Wang Q, Fan H, Feng S, Huang X, Luo X, Pan J, Wang J, Guo J, Li R, Lu B, Zhou C, Fei J, Xu Y.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200389
Article
14 Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry.
Autor/s:
Juan YC, Kuo JS, Chen HL, Cho DY, Lin HL, Cheng YK, Guo JH, Lin YH, Chang YJ, Ho HP, Huang YH, Chen CC.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200390
Article
Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.
Autor/s:
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200392
Article
Gene Expression Profiles at Early vs Late Stages After Cervical Artery Dissection.
Autor/s:
Ferguson RB, Green IE, Mcmurry TL, Keene KL, Williams SR, Hsu FC, Bekiranov S, Hyacinth HI, Jickling GC, Sale MM, Worrall BB, Southerland AM.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200396
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.
Autor/s:
Sabbagh Q, Villa Tobón F, Kazemi Z, Lentini L, Dilenge ME, Buhas D, Pastinen T, Thiffault I, Bernard G.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200377
Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.
Autor/s:
Cicala G, Rolleri E, Berti B, Luigetti M, Forcina N, Villa M, Capasso A, Arpaia C, Malaspina M, Fattori F, Bosco L, Primiano G, Novelli A, Rizza T, Bertini E, Pane M, Mercuri E.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200394

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Cercador

Novel VRK1 Variants and a Founder Effect in Axonal Polyneuropathy.

Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change.

Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation.

Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.

Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy.

14 Genetic Risk Factors for Intracerebral Hemorrhage in Populations of East Asian Ancestry.

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Gene Expression Profiles at Early vs Late Stages After Cervical Artery Dissection.

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.

Compound Heterozygous COA7 Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

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