Centre de documentació: resultats de cerca

HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.
Autor/s:
Falcone GMI, Tessa A, Rizzo C, Semeraro M, Barghigiani M, Santorelli FM, Musumeci O.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200401
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.
Autor/s:
Baso G, Magri F, Sciacco M, Corti SP, Comi GP, Ronchi D, Velardo D.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200399
19 KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.
Autor/s:
Politano D, Gana S, Orcesi S, Serpieri V, Rognone E, Pichiecchio A, Parazzini C, Tonduti D, Tartara E, Valente EM, Errichiello E.
Clinical/Scientific Notes
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200395
Article
Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.
Autor/s:
Massucco S, Hamedani M, Ponzano M, Manca R, Roveta E, Pichiecchio A, Asteggiano C, Zaottini F, Malaquias MJ, Currò R, Pardini M, Schenone A, Massa F, Cortese A, Grandis M.
Review
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200393
Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.
Autor/s:
Thompson Stone R, White AL, Rubin JP, Rajan DS, Matern D, Kurtzberg J, Orsini JJ, Shenoy S, Mallack EJ, Ream MA.
Contemporary Issues in Practice, Education, & Research
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200383
Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore.
Autor/s:
Narasimhalu K, Raheja A, Cham B, Chen CYT, Kam S, Tan EK.
Contemporary Issues in Practice, Education, & Research
Any publicació:
2026
Número de revista:
Neurology® Genetics. vol. 12 n. 3
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200391

Una iniciativa de:

Cercador

HSD17B4-Related Disorder: Defining the Phenotype in Adult-Onset Patients.

Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case Report.

19 KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.

Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.

Three Years of a New Multidisciplinary Adult Neurogenetics Clinic in Singapore.

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