Publicaciones científicas

Cerfontaine MN, Gravesteijn G, Hack RJ, Gesierich B, Kruit MC, Van Den Wijngaard IR, Notting IC, Nibbeling EAR, Bugiani M, van der Knaap MS, Boon CJF, Duering M, Rutten JW, Lesnik Oberstein SAJ.

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 2

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200358

Artículo

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Autor/es:

Terry LE, Dubbs H, Markwalter KH, Malik S, Tintos-Hernandez JA, Yule DI, Ortiz-Gonzalez XR.

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200328

Artículo

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Autor/es:

Saucier J, Al-Qadi M, Allain EP, Robichaud PP, Chamard-Witkowski L, Alvarez M, Dion-Côté AM, Richard L, Crapoulet N, Ben Amor M.

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200345

Una iniciativa de:

Buscador

Examining Trends in Nursing Home Placement Following Traumatic SCI: Insights From the National SCI Model Systems Database.

Exercise as a Biological Driver of Skeletal Muscle Regeneration and Repair: Implications for Regenerative Rehabilitation

Exercise Impact on Cardiovascular Autonomic, Cerebrovascular, and Cognitive Dysfunction in Individuals With Spinal Cord Injury.

Exercise-Induced Symptom Exacerbation and Adverse Events in Moderate-to-Severe Traumatic Brain Injury.

Expanding Evidence of Leptomeningeal Involvement in MOGAD and Its Relevance to Its Pathophysiology.

Expanding the AFG3L2 Spectrum: A Link to Axonal Neuropathy.

Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic Manifestations.

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

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