Neurology® Genetics. vol. 6 n. 5

Neurology® Genetics. vol. 6 n. 5

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Neurology® Genetics

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2020

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Editorial
Genetic risk for Alzheimer disease affects the brain throughout the lifespan
Autor/s:
Linden DEJ
Editorial
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e516
Article
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
Autor/s:
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.
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e466
Article
Genetic risk scores and hallucinations in patients with Parkinson disease.
Autor/s:
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.
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e492
Article
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Autor/s:
Motley WW, Züchner S, Scherer SS.
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e496
Article
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.
Autor/s:
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.
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e498
Article
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Autor/s:
Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T.
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e500
Article
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1.
Autor/s:
Miller JN, van der Plas E, Hamilton M, Koscik TR, Gutmann L, Cumming SA, Monckton DG, Nopoulos PC.
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e504
Article
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy.
Autor/s:
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...
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e505
Article
Genetic risk for Alzheimer disease predicts hippocampal volume through the human lifespan
Autor/s:
Walhovd KB, Fjell AM, Sørensen Ø, Mowinckel AM, Reinbold CS, Idland AV, Watne LO, Franke A, Dobricic V, Kilpert F, Bertram L, Wang Y
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e506
Article
Disease duration in autosomal dominant familial Alzheimer disease: A survival analysis
Autor/s:
Pavisic IM, Nicholas JM, O'Connor A, Rice H, Lu K, Fox NC, Ryan NS...
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e508
Article
Matrix metalloproteinase-degraded type I collagen is associated with APOE/TOMM40 variants and preclinical dementia
Autor/s:
Tang MHE, Blair JPM, Bager CL, Bay-Jensen AC, Henriksen K, Christiansen C, Karsdal MA
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e508
Article
Integrative analysis identifies the association between CASZ1 methylation and ischemic stroke
Autor/s:
Mo XB, Zhang H, Wang AL, Xu T, Zhang YH
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e509
Article
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Autor/s:
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.
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e513
Article
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
Autor/s:
Odake Y, Koh K, Takiyama Y, Ishiura H, Tsuji S, Yamada M, Yoshita M
Any publicació:
2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e514
Article
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability
Autor/s:
Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs GG, Molnar MJ
Any publicació:
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/s:
Verheyen S, Speicher MR, Ramler B, Plecko B
Clinical/Scientific Notes
Any publicació:
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/s:
Jih KY, Tsai PC, Tsai YS, Liao YC, Lee YC
Clinical/Scientific Notes
Any publicació:
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/s:
Mastrangelo M, Manti F, Giannini MT, Guerrini R, Leuzzi V
Clinical/Scientific Notes
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2020
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Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e510
Article
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
Autor/s:
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
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e511
Article
Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?
Autor/s:
Reitz C, Rogaeva E, Beecham GW
Views & Reviews
Any publicació:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 5
https://ng.neurology.org/content/6/5/e512
Article
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 ...
Any publicació:
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 aquest 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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