Neurology® Genetics. vol. 6 n. 5

Neurology® Genetics. vol. 6 n. 5

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Neurology® Genetics

Año publicación:

2020

En este número

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
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
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
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
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Autor/es:
Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, Muzny DM, Tejomurtula A, Ross OA, Shaw C, Jankovic J, Bi W, Posey JE, Lupski JR, Shulman JM.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e498
Artículo
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Autor/es:
Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e500
Artículo
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
Autor/es:
Miller JN, van der Plas E, Hamilton M, Koscik TR, Gutmann L, Cumming SA, Monckton DG, Nopoulos PC.
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e504
Artículo
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Autor/es:
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli...
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e505
Artículo
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan
Autor/es:
Walhovd KB, Fjell AM, Sørensen Ø, Mowinckel AM, Reinbold CS, Idland AV, Watne LO, Franke A, Dobricic V, Kilpert F, Bertram L, Wang Y
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e506
Artículo
Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis
Autor/es:
Pavisic IM, Nicholas JM, O'Connor A, Rice H, Lu K, Fox NC, Ryan NS...
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e508
Artículo
Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia
Autor/es:
Tang MHE, Blair JPM, Bager CL, Bay-Jensen AC, Henriksen K, Christiansen C, Karsdal MA
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e508
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
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
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
Autor/es:
Jih KY, Tsai PC, Tsai YS, Liao YC, Lee YC
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e503
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood
Autor/es:
Mastrangelo M, Manti F, Giannini MT, Guerrini R, Leuzzi V
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e510
Artículo
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
Autor/es:
Brusa R, Mauri E, Dell’Arti L, Magri F, Ronchi D, Minorini V, Mainetti C, Gagliardi D, Faravelli I, Meneri M, Bresolin N, Viola F, Corti S, Comi GP
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e511
Artículo
Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?
Autor/es:
Reitz C, Rogaeva E, Beecham GW
Views & Reviews
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e512
Artículo
Correction
Correction for: Rosenblum JS, Cappadona AJ, Argersinger DP, Pang Y, Wang H, Nazari MA, Munasinghe JP, Donahue DR, Jha A, Smirniotopoulos JG, Miettinen MM, Knutsen RH, Kozel BA, Zhuang Z, Pacak K, Heiss JD. Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition ...
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e501

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Neurology® Genetics. vol. 6 n. 5

Neurology® Genetics. vol. 6 n. 5

En este número

Genetic risk for Alzheimer disease affects the brain throughout the lifespan

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

Genetic risk scores and hallucinations in patients with Parkinson disease.

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

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.

Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.

Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan

Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis

Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia

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

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

Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene

Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Correction

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