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
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
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
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
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
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
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
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
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