Works matching IS 13646745 AND DT 2011 AND VI 12 AND IP 4

Results: 11

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 333, doi. 10.1007/s10048-011-0291-8
By:
- Alazami, Anas;
- Adly, Nouran;
- Al Dhalaan, Hisham;
- Alkuraya, Fowzan
Publication type:
Article
Up-regulation of metallothionein gene expression in Parkinsonian astrocytes.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 295, doi. 10.1007/s10048-011-0294-5
By:
- Michael, Gregory;
- Esmailzadeh, Sharmin;
- Moran, Linda;
- Christian, Lynne;
- Pearce, Ronald;
- Graeber, Manuel
Publication type:
Article
Genetic variability in SNCA and Parkinson's disease.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 283, doi. 10.1007/s10048-011-0292-7
By:
- Pihlstrøm, Lasse;
- Toft, Mathias
Publication type:
Article
Late-onset Alzheimer's disease is associated with mitochondrial DNA 7028C/haplogroup H and D310 poly-C tract heteroplasmy.
Published in:
2011
By:
- Coto, Eliecer;
- Gómez, Juan;
- Alonso, Belén;
- Corao, Ana;
- Díaz, Marta;
- Menéndez, Manuel;
- Martínez, Carmen;
- Calatayud, María;
- Morís, Germán;
- Álvarez, Victoria
Publication type:
Letter
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 307, doi. 10.1007/s10048-011-0296-3
By:
- Evans-Galea, Marguerite;
- Corben, Louise;
- Hasell, Justin;
- Galea, Charles;
- Fahey, Michael;
- Sart, Desirée;
- Delatycki, Martin
Publication type:
Article
Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 315, doi. 10.1007/s10048-011-0297-2
By:
- Daalen, Emma;
- Kemner, Chantal;
- Verbeek, Nienke;
- Zwaag, Bert;
- Dijkhuizen, Trijnie;
- Rump, Patrick;
- Houben, Renske;
- Slot, Ruben;
- Jonge, Maretha;
- Staal, Wouter;
- Beemer, Frits;
- Vorstman, Jacob;
- Burbach, J.;
- Amstel, Hans;
- Hochstenbach, Ron;
- Brilstra, Eva;
- Poot, Martin
Publication type:
Article
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 325, doi. 10.1007/s10048-011-0293-6
By:
- Gan-Or, Ziv;
- Bar-Shira, Anat;
- Gurevich, Tanya;
- Giladi, Nir;
- Orr-Urtreger, Avi
Publication type:
Article
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL).
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 337, doi. 10.1007/s10048-011-0298-1
By:
- Ragno, Michele;
- Pianese, Luigi;
- Pinelli, Michele;
- Silvestri, Serena;
- Cacchiò, Gabriella;
- Marzio, Fabio;
- Scarcella, Maria;
- Coretti, Francesco;
- Altamura, Fabiana;
- Monticelli, Antonella;
- Castaldo, Imma
Publication type:
Article
New mutations in the ATM gene and clinical data of 25 AT patients.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 273, doi. 10.1007/s10048-011-0299-0
By:
- Demuth, Ilja;
- Dutrannoy, Véronique;
- Marques, Wilson;
- Neitzel, Heidemarie;
- Schindler, Detlev;
- Dimova, Petja;
- Chrzanowska, Krystyna;
- Bojinova, Veneta;
- Gregorek, Hanna;
- Graul-Neumann, Luitgard;
- Moers, Arpad;
- Schulze, Ilka;
- Nicke, Marion;
- Bora, Elcin;
- Cankaya, Tufan;
- Oláh, Éva;
- Kiss, Csongor;
- Bessenyei, Beáta;
- Szakszon, Katalin;
- Gruber-Sedlmayr, Ursula
Publication type:
Article
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 263, doi. 10.1007/s10048-011-0302-9
By:
- Elfferich, Peter;
- Verleun-Mooijman, Marja;
- Maat-Kievit, J.;
- Warrenburg, Bart;
- Abdo, Wilson;
- Eshuis, Sylvia;
- Leenders, Klaus;
- Hovestadt, Ad;
- Zijlmans, Jan;
- Stroy, Jan-Pieter;
- Swieten, John;
- Boon, Agnita;
- Engelen, Klaartje;
- Verschuuren-Bemelmans, Corien;
- Lesnik-Oberstein, Saskia;
- Tassorelli, Cristina;
- Lopiano, Leonardo;
- Bonifati, Vincenzo;
- Dooijes, Dennis;
- Minkelen, Rick
Publication type:
Article
Acknowledgement to Referees 2010/2011.
Published in:
Neurogenetics, 2011, v. 12, n. 4, p. 347, doi. 10.1007/s10048-011-0301-x
Publication type:
Article