Centre de documentació: resultats de cerca | Siidon | Guttmann

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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
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
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
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
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
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
Article
Longitudinal Recovery of Executive Control Functions After Moderate-Severe Traumatic Brain Injury: Examining Trajectories of Variability and Ex-Gaussian Parameters.
Autor/s:
Vasquez BP, Tomaszczyk JC, Sharma B, Colella B, Green REA.
Any publicació:
2018
Número de revista:
Neurorehabilitation and Neural Repair vol. 32 n. 3
http://journals.sagepub.com/doi/full/10.1177/1545968318760727
Article
Evidence for Differential Effects of 2 Forms of Exercise on Prefrontal Plasticity During Walking in Parkinson's Disease.
Autor/s:
Maidan I, Nieuwhof F, Bernad-Elazari H, Bloem BR, Giladi N, Hausdorff JM, Claassen JAHR, Mirelman A.
Any publicació:
2018
Número de revista:
Neurorehabilitation and Neural Repair vol. 32 n. 3
http://journals.sagepub.com/doi/full/10.1177/1545968318763750
Article
Aerobic With Resistance Training or Aerobic Training Alone Poststroke: A Secondary Analysis From a Randomized Clinical Trial.
Autor/s:
Marzolini S, Brooks D, Oh P, Jagroop D, MacIntosh BJ, Anderson ND, Alter D, Corbett D.
Any publicació:
2018
Número de revista:
Neurorehabilitation and Neural Repair vol. 32 n. 3
http://journals.sagepub.com/doi/full/10.1177/1545968318765692