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Article
NNZ-2591 in Children and Adolescents With Phelan-McDermid Syndrome: Single-Group, Open-Label, Phase 2 Trial Results.
Autor/s:
Neumeyer AM, Srivastava S, Holder JL, Milad MA, Squires L, Jones NE, Glass L, Berry-Kravis E.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200338
Article
Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution.
Autor/s:
Alawneh I, Alemán A, Nigro E, Bouchard M, Gonorazky HD.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200339
Article
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity.
Autor/s:
Liu CC, Kurade M, Monzel AS, Kelly C, Juster RP, Trumpff C, Hirano M, Picard M.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200343
Article
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.
Autor/s:
Corradi A, Riva A, Sterlini B, Morinelli L, Ludovico A, Madia F, Striano P, Albini M, Vitale P, Pusch M, Lombardo G, Elia M, Chatron N, Lesca G, Zara F, Falsaperla R, Ferrera L.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200344
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
Article
Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.
Autor/s:
Messina M, Whiteley R, Gan C, Heywood WE, Heslegrave AJ, Keating M, Taylor S, Footitt E, Mills P, Hemingway C, Gissen P, Vecchiato K.
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200348
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
DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature.
Autor/s:
Grinberg M, Dale B, Ramachandrannair R, Tarnopolsky M, Whitney R, Ejaz R.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200334
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report.
Autor/s:
Hebbink JA, Niermeijer JF, Vroegindeweij E, de Vries BBA, Pegge S, Kamsteeg EJ, Willemsen MAAP.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 1
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200342
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