Works matching IS 13646745 AND DT 2016 AND VI 17 AND IP 4

Results: 10

PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 227, doi. 10.1007/s10048-016-0493-1

By:

Shahrour, Maher;
Nicolae, Claudia;
Edvardson, Simon;
Ashhab, Motee;
Galvan, Adri;
Constantin, Daniel;
Abu-Libdeh, Bassam;
Moldovan, George-Lucian;
Elpeleg, Orly

Publication type:

Article

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 219, doi. 10.1007/s10048-016-0487-z

By:

Edvardson, Simon;
Elbaz-Alon, Yael;
Jalas, Chaim;
Matlock, Ashanti;
Patel, Krishna;
Labbé, Katherine;
Shaag, Avraham;
Jackman, Jane;
Elpeleg, Orly

Publication type:

Article

Transcriptional regulation of long-term potentiation.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 201, doi. 10.1007/s10048-016-0489-x

By:

Bliim, Nicola;
Leshchyns'ka, Iryna;
Sytnyk, Vladimir;
Janitz, Michael

Publication type:

Article

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 251, doi. 10.1007/s10048-016-0491-3

By:

Cohen, Rony;
Halevy, Ayelet;
Aharoni, Sharon;
Kraus, Dror;
Konen, Osnat;
Basel-Vanagaite, Lina;
Goldberg-Stern, Hadassa;
Straussberg, Rachel

Publication type:

Article

Acknowledgement to Referees 2015/2016.

Published in:: Neurogenetics, 2016, v. 17, n. 4, p. 271, doi. 10.1007/s10048-016-0492-2
Publication type:: Article

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 245, doi. 10.1007/s10048-016-0486-0

By:

Mestre, Tiago;
Manole, Andreea;
MacDonald, Heather;
Riazi, Sheila;
Kraeva, Natalia;
Hanna, Michael;
Lang, Anthony;
Männikkö, Roope;
Yoon, Grace

Publication type:

Article

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 233, doi. 10.1007/s10048-016-0494-0

By:

La Cognata, Valentina;
Morello, Giovanna;
Gentile, Giulia;
D'Agata, Velia;
Criscuolo, Chiara;
Cavalcanti, Francesca;
Cavallaro, Sebastiano

Publication type:

Article

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 265, doi. 10.1007/s10048-016-0495-z

By:

Kumar, Kishore;
Wali, G.M.;
Kamate, Mahesh;
Wali, Gautam;
Minoche, André;
Puttick, Clare;
Pinese, Mark;
Gayevskiy, Velimir;
Dinger, Marcel;
Roscioli, Tony;
Sue, Carolyn;
Cowley, Mark

Publication type:

Article

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 259, doi. 10.1007/s10048-016-0496-y

By:

Martín-Hernández, Elena;
Rodríguez-García, María;
Camacho, Ana;
Matilla-Dueñas, Antoni;
García-Silva, María;
Quijada-Fraile, Pilar;
Corral-Juan, Marc;
Tejada-Palacios, Pilar;
Las Heras, Rogelio;
Arenas, Joaquín;
Martín, Miguel;
Martínez-Azorín, Francisco

Publication type:

Article

Cortical gene expression: prognostic value for seizure outcome following temporal lobectomy and amygdalohippocampectomy.

Published in:

Neurogenetics, 2016, v. 17, n. 4, p. 211, doi. 10.1007/s10048-016-0484-2

By:

Gallek, Matthew;
Skoch, Jesse;
Ansay, Tracy;
Behbahani, Mandana;
Mount, David;
Manziello, Ann;
Witte, Marlys;
Bernas, Michael;
Labiner, David;
Weinand, Martin

Publication type:

Article