Neurology® Genetics. vol. 4 n. 2

Neurology® Genetics. vol. 4 n. 2

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Neurology® Genetics

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2018

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Article
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
Autor/s:
Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, Chioza BA, Blakely RD, Chilton JK, De Bleecker J, Baets J, Baple EL, Walk D, Crosby AH.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e222.abstract
Article
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Autor/s:
Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e223.abstract
Article
Rare ABCA7 variants in 2 German families with Alzheimer disease.
Autor/s:
May P, Pichler S, Hartl D, Bobbili DR, Mayhaus M, Spaniol C, Kurz A, Balling R, Schneider JG, Riemenschneider M.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e224.abstract
Article
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Autor/s:
Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e225.extract
Article
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.
Autor/s:
Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e226.extract
Article
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.
Autor/s:
Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e227.extract
Article
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.
Autor/s:
Leuzzi V, D'Agnano D, Menotta M, Caputi C, Chessa L, Magnani M...
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e228.abstract
Article
Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant.
Autor/s:
Margolesky J, Saporta M.
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e229.extract
Article
Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.
Autor/s:
Grier J, Hirano M, Karaa A, Shepard E, Thompson JLP.
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e230.abstract
Article
Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability.
Autor/s:
Krim E, Aupy J, Clot F, Bonnan M, Burbaud P, Guehl D. ...
Clinical/Scientific Notes
Any publicació:
2018
Número de revista:
Neurology® Genetics. vol. 4 n. 2
http://ng.neurology.org/content/4/2/e231.extract

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Neurology® Genetics. vol. 4 n. 2

Neurology® Genetics. vol. 4 n. 2

En aquest número

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Rare ABCA7 variants in 2 German families with Alzheimer disease.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.

Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant.

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey.

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability.

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