Works matching IS 13646745 AND DT 2009 AND VI 10 AND IP 4

Results: 14

SCA27 caused by a chromosome translocation: further delineation of the phenotype.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 371, doi. 10.1007/s10048-009-0197-x

By:

Misceo, D.;
Fannemel, M.;
Barøy, T.;
Roberto, R.;
Tvedt, B.;
Jæger, T.;
Bryn, V.;
Strømme, P.;
Frengen, E.

Publication type:

Article

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 363, doi. 10.1007/s10048-009-0195-z

By:

Erez, Ayelet;
Patel, Amina J.;
Wang, Xueqing;
Xia, Zhilian;
Bhatt, Samarth S.;
Craigen, William;
Cheung, Sau Wai;
Lewis, Richard A.;
Fang, Ping;
Davenport, Sandra L. H.;
Stankiewicz, Pawel;
Lalani, Seema R.

Publication type:

Article

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 337, doi. 10.1007/s10048-009-0194-0

By:

Wang, Kang;
Takahashi, Yuji;
Gao, Zong-Liang;
Wang, Guo-Xiang;
Chen, Xian-Wen;
Goto, Jun;
Lou, Jin-Ning;
Tsuji, Shoji

Publication type:

Article

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 325, doi. 10.1007/s10048-009-0191-3

By:

Dursun, Umut;
Koroglu, Cigdem;
Kocasoy Orhan, Elif;
Ugur, Sibel Aylin;
Tolun, Aslıhan

Publication type:

Article

Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 347, doi. 10.1007/s10048-009-0187-z

By:

Mata, Ignacio F.;
Hutter, Carolyn M.;
González-Fernández, María C.;
de Pancorbo, Marian M.;
Lezcano, Elena;
Huerta, Cecilia;
Blazquez, Marta;
Ribacoba, Renee;
Guisasola, Luis M.;
Salvador, Carlos;
Gómez-Esteban, Juan C.;
Zarranz, Juan J.;
Infante, Jon;
Jankovic, Joseph;
Deng, Hao;
Edwards, Karen L.;
Alvarez, Victoria;
Zabetian, Cyrus P.

Publication type:

Article

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 313, doi. 10.1007/s10048-009-0189-x

By:

Colombo, Roberto;
Tavian, Daniela;
Baker, Matthew C.;
Richardson, Anna M. T.;
Snowden, Julie S.;
Neary, David;
Mann, David M. A.;
Pickering-Brown, Stuart M.

Publication type:

Article

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1

By:

Brusse, Esther;
Majoor-Krakauer, Danielle;
de Graaf, Bianca M.;
Visser, Gerhard H.;
Swagemakers, Sigrid;
Boon, Agnita J. W.;
Oostra, Ben A.;
Bertoli-Avella, Aida M.

Publication type:

Article

Ashkenazi Parkinson’s disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 355, doi. 10.1007/s10048-009-0186-0

By:

Bar-Shira, Anat;
Hutter, Carolyn M.;
Giladi, Nir;
Zabetian, Cyrus P.;
Orr-Urtreger, Avi

Publication type:

Article

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 307, doi. 10.1007/s10048-009-0185-1

By:

Aldahmesh, M. A.;
Al-Hassnan, Z. N.;
Aldosari, M.;
Alkuraya, F. S.

Publication type:

Article

The impact of spermine synthase (SMS) mutations on brain morphology.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 299, doi. 10.1007/s10048-009-0184-2

By:

Kesler, Shelli R.;
Schwartz, Charles;
Stevenson, Roger E.;
Reiss, Allan L.

Publication type:

Article

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 359, doi. 10.1007/s10048-009-0188-y

By:

Ajroud-Driss, S.;
Fecto, F.;
Ajroud, K.;
Yang, Y.;
Donkervoort, S.;
Siddique, N.;
Siddique, T.

Publication type:

Article

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 333, doi. 10.1007/s10048-009-0192-2

By:

de Wit, M. C. Y.;
de Coo, I. F. M.;
Halley, D. J. J.;
Lequin, M. H.;
Mancini, G. M. S.

Publication type:

Article

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.

Published in:

Neurogenetics, 2009, v. 10, n. 4, p. 319, doi. 10.1007/s10048-009-0190-4

By:

Traoré, M.;
Landouré, G.;
Motley, W.;
Sangaré, M.;
Meilleur, K.;
Coulibaly, S.;
Traoré, S.;
Niaré, B.;
Mochel, F.;
La Pean, A.;
Vortmeyer, A.;
Mani, H.;
Fischbeck, K. H.

Publication type:

Article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

Published in:

2009

By:

Leal, Alejandro;
Huehne, Kathrin;
Bauer, Finn;
Sticht, Heinrich;
Berger, Philipp;
Suter, Ueli;
Morera, Bernal;
Valle, Gerardo;
Lupski, James;
Ekici, Arif;
Pasutto, Francesca;
Endele, Sabine;
Barrantes, Ramiro;
Berghoff, Corinna;
Berghoff, Martin;
Neundörfer, Bernhard;
Heuss, Dieter;
Dorn, Thomas;
Young, Peter;
Santolin, Lisa

Publication type:

Correction Notice