Neurology® Genetics. vol. 8 n. 4

Neurology® Genetics. vol. 8 n. 4

Volumen:

Ver revista:

Neurology® Genetics

Año publicación:

2022

En este número

Artículo
Genome Sequencing in the Parkinson Disease Clinic
Autor/es:
Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200002
Artículo
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance
Autor/es:
Goldstein O, Inbar T, Kedmi M, Gana-Weisz M, Abramovich B, Orr-Urtreger A, Drory VE
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200009
Artículo
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
Autor/es:
Ross JP, Akçimen F, Liao C, Spiegelman D, Weisburd B, Dupré N, Dion PA, Rouleau GA, Farhan SMK
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e678
Artículo
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant
Autor/es:
Shen J, Shillington A, Espay AJ, Hill EJ
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200001
Artículo
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
Autor/es:
Bewley AF, Akinwe TM, Turner TN, Gutmann DH
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200003
Artículo
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
Autor/es:
Manini A, Velardo D, Ciscato P, Cinnante C, Moggio M, Comi G, Corti S, Ronchi D
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200006
Artículo
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
Autor/es:
Primiano G, Torraco A, Verrigni D, Sabino A, Bertini E, Carrozzo R, Silvestri G, Servidei S
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200007
Artículo
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation
Autor/es:
Alsaleh N, Alhashem A, Tabarki B, Mohamed S, Alharby E, Alkuraya FS, Almontashiri NAM
Clinical/Scientific Notes
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200010
Artículo de revisión
Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology
Autor/es:
Lin X, Yang Y, Melton PE, Singh V, Simpson-Yap S, Burdon KP, Taylor BV, Zhou Y
Review
Año publicación:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200005

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Neurology® Genetics. vol. 8 n. 4

Neurology® Genetics. vol. 8 n. 4

En este número

Genome Sequencing in the Parkinson Disease Clinic

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance

Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis

Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant

Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation

Integrating Genetic Structural Variations and Whole-Genome Sequencing Into Clinical Neurology

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