Centro de documentación: resultados de la búsqueda

Artículo
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation
Autor/es:
Robson EA, Dixon L, Causon L, Dawes W, Benenati M, Fassad M, Hirst RA, Kenia P, Moya EF, Patel M, Peckham D, Rutman A, Mitchison HM, Mankad K, O'Callaghan C...
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e482
Artículo
Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue
Autor/es:
Auré K, Fayet G, Chicherin I, Rucheton B, Filaut S, Heckel AM, Eichler J, Caillon F, Péréon Y, Entelis N, Tarassov I, Lombès A
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e480
Artículo
Three-dimensional imaging in myotonic dystrophy type 1. Linking molecular alterations with disease phenotype
Autor/es:
Three-dimensional imaging in myotonic dystrophy type 1. Linking molecular alterations with disease phenotype
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e484
Artículo
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency
Autor/es:
Misko AL, Liang Y, Kohl JB, Eichler F
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e486
Artículo
Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.
Autor/es:
Yasuda R, Yoshida T, Mizuta I, Watanabe M, Nakano M, Sato R, Tokuda Y, Omi N, Sakai N, Nakagawa M, Tashiro K, Mizuno T.
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e442
Artículo
A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.
Autor/es:
Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, Dyment DA.
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e452
Artículo
A novel PRNP-G131R variant associated with familial prion disease.
Autor/es:
Alshaikh JT, Qin K, Zhao L, Mastrianni JA.
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e454
Artículo
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.
Autor/es:
Mihaylova V, Chablais F, Herenger Y, Spiegel R, Heinrich Jung H.
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e458
Artículo
Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis
Autor/es:
Kazamel M, Lopez MA, Bebin M, Bowling K, Korf BR, Barsh GS, Cooper GM, Hurst ACE, Ubogu EE
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e476
Artículo
SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes
Autor/es:
Martin Paucar, Tobias Granberg, Kristina Lagerstedt-Robinson, Elisabet Waldenlind, Petersson S, Nordin L, Svenningsson P
Clinical/Scientific Notes
Año publicación:
2020
Número de revista:
Neurology® Genetics. vol. 6 n. 4
https://ng.neurology.org/content/6/4/e474

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Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue

Three-dimensional imaging in myotonic dystrophy type 1. Linking molecular alterations with disease phenotype

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency

Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation.

A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.

A novel PRNP-G131R variant associated with familial prion disease.

Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

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