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

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

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

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