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Artículo
Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysis.
Autor/es:
Barberio J, Lally C, Kupelian V, Hardiman O, Flanders WD.
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200109
Artículo
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study.
Autor/es:
Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200111
Artículo
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Autor/es:
Kang PB, Jorand-Fletcher M, Zhang W, McDermott SW, Berry R, Chambers C, Wong KN, Mohamed Y, Thomas S, Venkatesh YS, Westfield C, Whitehead N, Johnson NE; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200113
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder
Autor/es:
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C
Clinical/Scientific Notes
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200098
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Autor/es:
Ben-Shabat I, Kvarnung M, Sperker W, Bruhn H, Wredenberg A, Wibom R, Nennesmo I, Engvall M, Paucar M.
Clinical/Scientific Notes
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200100
Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review
Autor/es:
Wong KN, Botto LD, He M, Baker PR, Vanderver AL, Bonkowsky JL
Clinical/Scientific Notes
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200101
Agenesis of Pectoralis Major Muscle in Late-Onset GFPT1-Related Congenital Myasthenic Syndrome A Case Report
Autor/es:
Williams EK, Shea C, Gonzalez Perez P
Clinical/Scientific Notes
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200102
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology
Autor/es:
Rambani V, Kolnikova M, Cagalinec M, Skopkova M, Gasperikova D
Clinical/Scientific Notes
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200106
Artículo
FOLR1 Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years
Autor/es:
Manco C, Cortese R, Alberti M, Bianchi S, Monti L, De Stefano N, Battisti C
NeuroImage
Año publicación:
2023
Número de revista:
Neurology® Genetics. vol. 9 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200104
Many Benefits of Reviewing for the American Journal of Physical Medicine and Rehabilitation.
Autor/es:
Robinson LR, Frontera WR.
Editorial
Año publicación:
2024
Número de revista:
American Journal of Physical Medicine & Rehabilitation vol. 103 n. 1
https://journals.lww.com/ajpmr/fulltext/2024/01000/many_benefits_of_reviewing_fo…