Works matching IS 13646745 AND DT 2020 AND VI 21 AND IP 4

Results: 9

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7

By:

Santoro, Massimo;
Perna, Alessia;
La Rosa, Piergiorgio;
Petrillo, Sara;
Piemonte, Fiorella;
Rossi, Salvatore;
Riso, Vittorio;
Nicoletti, Tommaso Filippo;
Modoni, Anna;
Pomponi, Maria Grazia;
Chiurazzi, Pietro;
Silvestri, Gabriella

Publication type:

Article

Acknowledgement to referees 2019/2020.

Published in:: Neurogenetics, 2020, v. 21, n. 4, p. 309, doi. 10.1007/s10048-020-00627-0
Publication type:: Article

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 251, doi. 10.1007/s10048-020-00618-1

By:

Melis, Marta;
Molari, Andrea;
Floris, Gianluca;
Vascellari, Sarah;
Balestrino, Luisa;
Ladogana, Anna;
Poleggi, Anna;
Parchi, Piero;
Cossu, Giovanni;
Melis, Maurizio;
Orrù, Sandro;
Defazio, Giovanni

Publication type:

Article

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 269, doi. 10.1007/s10048-020-00616-3

By:

Wayhelova, Marketa;
Ryzí, Michal;
Oppelt, Jan;
Hladilkova, Eva;
Vallova, Vladimira;
Krskova, Lenka;
Vilemova, Marcela;
Polackova, Hana;
Gaillyova, Renata;
Kuglik, Petr

Publication type:

Article

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 243, doi. 10.1007/s10048-020-00611-8

By:

Hartman, Tamar Gur;
Yosovich, Keren;
Michaeli, Hila Gur;
Blumkin, Lubov;
Ben-Sira, Liat;
Lev, Dorit;
Lerman-Sagie, Tally;
Zerem, Ayelet

Publication type:

Article

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 289, doi. 10.1007/s10048-020-00621-6

By:

Beerepoot, Shanice;
van Dooren, Silvy J.M.;
Salomons, Gajja S.;
Boelens, Jaap Jan;
Jacobs, Edwin H.;
van der Knaap, Marjo S.;
van Kuilenburg, André B.P.;
Wolf, Nicole I.

Publication type:

Article

Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 305, doi. 10.1007/s10048-020-00619-0

By:

Tanti, Matthew;
Cairns, Diane;
Mirza, Nasir;
McCann, Emma;
Young, Carolyn

Publication type:

Article

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4

By:

Segel, Reeval;
Aran, Adi;
Gulsuner, Suleyman;
Nakamura, Hiroki;
Rosen, Tzvia;
Walsh, Tom;
Denda, Hiroto;
Zeligson, Sharon;
Eto, Katsuki;
Beeri, Rachel;
Okai, Haruka;
King, Mary-Claire;
Levy-Lahad, Ephrat;
Funato, Kouichi;
Renbaum, Paul

Publication type:

Article

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 301, doi. 10.1007/s10048-020-00617-2

By:

Halperin, Daniel;
Sapir, Aviad;
Wormser, Ohad;
Drabkin, Max;
Yogev, Yuval;
Dolgin, Vadim;
Flusser, Hagit;
Birk, Ohad S.

Publication type:

Article