Centro de documentación: resultados de la búsqueda

Artículo
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Autor/es:
Manisha KY, Fasaludeen A, Poulose P, Menon R, Thomas B, Nair SS, Cherian A, Divya KP, Sundaram S.
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200190
Artículo
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.
Autor/es:
Li S, Gui J, Passarelli MN, Andrew AS, Sullivan KM, Cornell KA, Traynor BJ, Stark A, Chia R, Kuenzler RM, Pioro EP, Bradley WG, Stommel EW.
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200188
Artículo
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Autor/es:
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. ...
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200186
Artículo
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.
Autor/es:
Saito S, Hosoki S, Yamaguchi E, Ishiyama H, Abe S, Yoshimoto T, Tanaka T, Hattori Y, Liao YC, Lee YC, Mizuta I, Mizuno T, Ihara M.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200176
Artículo
v
Autor/es:
Berling E, Latour P, Loiselet K, Guémy C, Vidoni L, Romero NB, Lacene E, Evangelista T, Stojkovic T.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200178
Artículo
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
Autor/es:
Sami L, Chipaux M, Ferrand-Sorbets S, Doladilhe M, Bulteau C, Raffo E, Rosenberg S, Dorfmuller G, Checri R, De Sainte Agathe JM, Leguern E, Adle-Biassette H, Baldassari S, Baulac S.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200180
Artículo
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Autor/es:
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200181
Artículo
Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.
Autor/es:
Meletti S, Duma GM, Burani M, Danieli A, Giovannini G, Osanni E, Micalizzi E, Mambretti F, Pugnaghi M, Vaudano AE, Bonanni P.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200183
Artículo
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.
Autor/es:
LoVoi J, Thai DQ, Han J, Wang S, Agonafer M, Thankappan B.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200184
Artículo
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.
Autor/es:
Claeys KG, Savarese M, Jonson PH, Goosens V, Topf A, Vihola A, Straub V, Udd B.
Clinical/Scientific Notes
Año publicación:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200185

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Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.

v

Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.

Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

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