Publicaciones científicas

Artículo

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

Autor/es:

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

Expanding the Genetic Landscape of Congenital Insensitivity to Pain.

Autor/es:

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

Clinical/Scientific Notes

Año publicación:

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/es:

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

Clinical/Scientific Notes

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 1

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

Artículo

Expanding the Spectrum of BCAP31-Associated Diseases: Early-Onset Parkinson Disease.

Autor/es:

Ishiguro M, Funayama M, Park DH, Hatano T, Nakazato T, Luo Y, Osawa M, Li Y, Yoshino H, Hattori N, Kanai K.

Año publicación:

2026

Número de revista:

Neurology® Genetics. vol. 12 n. 4

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200404

Artículo

Experience and acceptability of a guided self-help intervention for anxiety for individuals with Huntington's disease (GUIDE-HD trial): A qualitative study.

Autor/es:

Dale M, Melvin K, Eccles FJR, Bell-Jones L, Khan Z, Wells R, Johnson J, Zarotti N, Simpson J.

Año publicación:

2026

Número de revista:

Neuropsychological Rehabilitation vol. 36 n. 7

https://www.tandfonline.com/doi/full/10.1080/09602011.2025.2600422

Artículo

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

Autor/es:

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

Año publicación:

2026

Número de revista:

Neuropsychological Rehabilitation vol. 36 n. 2

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

Artículo

Expert Consensus Approach to Developing Inpatient Common Data Elements for Neonatal Encephalopathy Research.

Autor/es:

Peeples ES, Mietzsch U, Molloy EJ, Pilon B, Guez-Barber D, Soul J, Mohammad K, deVeber G, Chau V, Bonifacio SL, Craig AK, Afifi J, Sabir H, Groenendaal F, Shany E, Dizon MLV, Iwata O, Okulu E, Jermendy A, Boo NY, El-Dib M, Wintermark P; Newborn Brain Society Guidelines and Publications Committee.

Año publicación:

2026

Número de revista:

Neurology vol. 106 n. 5

https://www.neurology.org/doi/full/10.1212/WNL.0000000000214658

Artículo

Expert Opinion on Age-Related Sex Hormone Changes and Hypogonadism in People With Multiple Sclerosis: A Delphi Consensus Program.

Autor/es:

Bove R, Simoni M, Castelo-Branco C, Correale J, Hellwig K, Houtchens MK, Magyari M, Merki-Feld G, Montgomery S, Nappi RE, Shen W, Stenager E, Thompson H, Tulek Z, Marhardt K, Hillert JA. Bove R, et al.

Review

Año publicación:

2026

Número de revista:

Neurology® Clinical Practice vol. 16 n. 2

https://www.neurology.org/doi/full/10.1212/CPJ.0000000000200588

Una iniciativa de:

Buscador

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.

Expanding the Spectrum of BCAP31-Associated Diseases: Early-Onset Parkinson Disease.

Experience and acceptability of a guided self-help intervention for anxiety for individuals with Huntington's disease (GUIDE-HD trial): A qualitative study.

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

Expert Consensus Approach to Developing Inpatient Common Data Elements for Neonatal Encephalopathy Research.

Expert Opinion on Age-Related Sex Hormone Changes and Hypogonadism in People With Multiple Sclerosis: A Delphi Consensus Program.

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