Centro de documentación: resultados de la búsqueda

Artículo
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Autor/es:
Motley WW, Züchner S, Scherer SS.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e496
Artículo
Genetic risk scores and hallucinations in patients with Parkinson disease.
Autor/es:
Kusters CDJ, Paul KC, Duarte Folle A, Keener AM, Bronstein JM, Dobricic V, Tysnes OB, Bertram L, Alves G, Sinsheimer JS, Lill CM, Maple-Grødem J, Ritz BR.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e492
Artículo
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
Autor/es:
Prange L, Pratt M, Herman K, Schiffmann R, Mueller DM, McLean M, Mendez MM, Walley N, Heinzen EL, Goldstein D, Shashi V, Hunanyan A, Pagadala V, Mikati MA.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e466
Editorial
Genetic risk for Alzheimer disease affects the brain throughout the lifespan
Autor/es:
Linden DEJ
Editorial
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e516
Artículo
Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke
Autor/es:
Mo XB, Zhang H, Wang AL, Xu T, Zhang YH
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e509
Artículo
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Autor/es:
Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e513
Artículo
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
Autor/es:
Odake Y, Koh K, Takiyama Y, Ishiura H, Tsuji S, Yamada M, Yoshita M
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e514
Artículo
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability
Autor/es:
Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs GG, Molnar MJ
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e515
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations
Autor/es:
Monfrini E, Ronchi D, Franco G, Garbellini M, Straniero L, Scola E, Arienti F, Duga S, Comi GP, Bresolin N, Di Fonzo A
Clinical/Scientific Notes
Año publicación:
2020
https://ng.neurology.org/content/6/5/e488
Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication
Autor/es:
Verheyen S, Speicher MR, Ramler B, Plecko B
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e494

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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.

Genetic risk scores and hallucinations in patients with Parkinson disease.

D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.

Genetic risk for Alzheimer disease affects the brain throughout the lifespan

Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

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