Publicacions científiques

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.

Any publicació:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 2

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

Article

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

Autor/s:

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

Any publicació:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

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

Article

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

Autor/s:

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

Any publicació:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

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

Expanding the Genetic Landscape of Congenital Insensitivity to Pain.

Autor/s:

Pho-Iam T, Kulsirichawaroj P, Likasitwattanakul S, Ridchuayrod N, Sanmaneechai O, Limwongse C, Zuchner S.

Clinical/Scientific Notes

Any publicació:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200346

Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy.

Autor/s:

Putko BN, Sorenson EJ, Cui G, Liewluck T, Niu Z, Litchy WJ, Mer G, Milone M.

Clinical/Scientific Notes

Any publicació:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200332

Article

Experiences of an online version of a group education programme for the management of post-stroke fatigue: A qualitative descriptive focus group study.

Autor/s:

De Silva SD, van Kessel K, Bhatia A, Barker-Collo S, Krishnamurthi R, Feigin V, Te Ao B, Jones K.

Any publicació:

2026

Número de revista:

Neuropsychological Rehabilitation vol. 36 n. 2

https://www.tandfonline.com/doi/full/10.1080/09602011.2025.2512204

Una iniciativa de:

Cercador

Evidence based recommendations for health professionals to improve care of people with spinal cord injury and cognitive impairment: an update to the psychosocial care practice guide.

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 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.

Expanding the Genetic Landscape of Congenital Insensitivity to Pain.

Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathy.

Experiences of an online version of a group education programme for the management of post-stroke fatigue: A qualitative descriptive focus group study.

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