Works matching IS 13646745 AND DT 2017 AND VI 18 AND IP 1

Results: 10

Epigenome-wide DNA methylation analysis in siblings and monozygotic twins discordant for sporadic Parkinson's disease revealed different epigenetic patterns in peripheral blood mononuclear cells.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 7, doi. 10.1007/s10048-016-0497-x

By:

Kaut, Oliver;
Schmitt, Ina;
Tost, Jörg;
Busato, Florence;
Liu, Yi;
Hofmann, Per;
Witt, Stephanie;
Rietschel, Marcella;
Fröhlich, Holger;
Wüllner, Ullrich

Publication type:

Article

DRD2 C957T polymorphism is associated with improved 6-month verbal learning following traumatic brain injury.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 29, doi. 10.1007/s10048-016-0500-6

By:

Yue, John;
Winkler, Ethan;
Rick, Jonathan;
Burke, John;
McAllister, Thomas;
Oh, Sam;
Burchard, Esteban;
Hu, Donglei;
Rosand, Jonathan;
Temkin, Nancy;
Korley, Frederick;
Sorani, Marco;
Ferguson, Adam;
Lingsma, Hester;
Sharma, Sourabh;
Robinson, Caitlin;
Yuh, Esther;
Tarapore, Phiroz;
Wang, Kevin;
Puccio, Ava

Publication type:

Article

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 23, doi. 10.1007/s10048-016-0498-9

By:

Hully, Marie;
Ropars, Juliette;
Hubert, Laurence;
Boddaert, Nathalie;
Rio, Marlene;
Bernardelli, Mathieu;
Desguerre, Isabelle;
Cormier-Daire, Valerie;
Munnich, Arnold;
Lonlay, Pascale;
Reilly, Louise;
Besmond, Claude;
Bahi-Buisson, Nadia

Publication type:

Article

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Published in:

2017

By:

Cao, Michelangelo;
Donà, Marta;
Lucia Valentino, Maria;
Semplicini, Claudio;
Maresca, Alessandra;
Cassina, Matteo;
Torraco, Alessandra;
Galletta, Eva;
Manfioli, Valeria;
Sorarù, Gianni;
Carelli, Valerio;
Stramare, Roberto;
Bertini, Enrico;
Carrozzo, Rosalba;
Salviati, Leonardo;
Pegoraro, Elena

Publication type:

Erratum

Circular RNAs-one of the enigmas of the brain.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 1, doi. 10.1007/s10048-016-0490-4

By:

Filippenkov, Ivan;
Kalinichenko, Eugene;
Limborska, Svetlana;
Dergunova, Lyudmila

Publication type:

Article

A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 39, doi. 10.1007/s10048-016-0502-4

By:

Kolicheski, Ana;
Johnson, Gary;
Mhlanga-Mutangadura, Tendai;
Taylor, Jeremy;
Schnabel, Robert;
Kinoshita, Taroh;
Murakami, Yoshiko;
O'Brien, Dennis

Publication type:

Article

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

Published in:

2017

By:

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

Publication type:

Erratum

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 63, doi. 10.1007/s10048-016-0505-1

By:

Manole, Andreea;
Horga, Alejandro;
Gamez, Josep;
Raguer, Nuria;
Salvado, Maria;
San Millán, Beatriz;
Navarro, Carmen;
Pittmann, Alan;
Reilly, Mary;
Houlden, Henry

Publication type:

Article

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 49, doi. 10.1007/s10048-016-0504-2

By:

Schon, Katherine;
Spasic-Boskovic, Olivera;
Brugger, Kim;
Graves, Tracey;
Abbs, Stephen;
Park, Soo-Mi;
Ambegaonkar, Gautam;
Armstrong, Ruth

Publication type:

Article

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 57, doi. 10.1007/s10048-016-0507-z

By:

Fattal-Valevski, Aviva;
Eliyahu, Hila;
Fraenkel, NItai;
Elmaliach, Ganit;
Hausman-Kedem, Moran;
Shaag, Avraham;
Mandel, Dror;
Pines, Ophry;
Elpeleg, Orly

Publication type:

Article