Works matching IS 13646745 AND DT 2011 AND VI 12 AND IP 1

Results: 15

Confirmed association between monoamine oxidase A molecular polymorphisms and Sudden Infant Death Syndrome.

Published in:

2011

By:

Filonzi, Laura;
Magnani, Cinzia;
Nonnis Marzano, Francesco

Publication type:

Letter

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 1, doi. 10.1007/s10048-010-0255-4

By:

Guen, Tangui;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Boddaert, Nathalie;
Fichou, Yann;
Diebold, Bertrand;
Desguerre, Isabelle;
Raqbi, Florence;
Daire, Valérie;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3

By:

Chouery, Eliane;
Delague, Valérie;
Jalkh, Nadine;
Salem, Nabiha;
Kfoury, Jessy;
Rodriguez, Diana;
Chabrol, Brigitte;
Boespflug-Tanguy, Odile;
Lévy, Nicolas;
Serre, Jean;
Mégarbané, André

Publication type:

Article

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 41, doi. 10.1007/s10048-010-0253-6

By:

Matsukawa, Takashi;
Asheuer, Muriel;
Takahashi, Yuji;
Goto, Jun;
Suzuki, Yasuyuki;
Shimozawa, Nobuyuki;
Takano, Hiroki;
Onodera, Osamu;
Nishizawa, Masatoyo;
Aubourg, Patrick;
Tsuji, Shoji

Publication type:

Article

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 83, doi. 10.1007/s10048-010-0261-6

By:

Schleider, Elisa;
Stahl, Sonja;
Wüstehube, Joycelyn;
Walter, Ulrich;
Fischer, Andreas;
Felbor, Ute

Publication type:

Article

OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 79, doi. 10.1007/s10048-010-0254-5

By:

Becker, Matthijs;
Visser, Loes;
Schaik, Ron;
Hofman, Albert;
Uitterlinden, André;
Stricker, Bruno

Publication type:

Article

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.

Published in:

2011

By:

Wang, Yu-Liang;
Zeng, Zhi-Yong;
Song, Xing-Wang;
Hao, Zhuo-Fang;
Shi, Yi-Wu;
Tang, Bin;
Chen, Sheng-Qiang;
Gao, Mei-Mei;
Di, Wei;
Long, Yue-Sheng;
Yi, Yong-Hong;
Liao, Wei-Ping

Publication type:

Letter

Novel ATP13A2 ( PARK9) homozygous mutation in a family with marked phenotype variability.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 33, doi. 10.1007/s10048-010-0259-0

By:

Santoro, Lucio;
Breedveld, Guido;
Manganelli, Fiore;
Iodice, Rosa;
Pisciotta, Chiara;
Nolano, Maria;
Punzo, Francesca;
Quarantelli, Mario;
Pappatà, Sabina;
Fonzo, Alessio;
Oostra, Ben;
Bonifati, Vincenzo

Publication type:

Article

Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 25, doi. 10.1007/s10048-010-0260-7

By:

Miura, Shiroh;
Shibata, Hiroki;
Kida, Hiroshi;
Noda, Kazuhito;
Toyama, Takayuki;
Iwasaki, Naoka;
Iwaki, Akiko;
Ayabe, Mitsuyoshi;
Aizawa, Hisamichi;
Taniwaki, Takayuki;
Fukumaki, Yasuyuki

Publication type:

Article

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

Published in:

2011

By:

Clot, Fabienne;
Grabli, David;
Burbaud, Pierre;
Aya, Magali;
Derkinderen, Pascal;
Defebvre, Luc;
Damier, Philippe;
Krystkowiak, Pierre;
Pollak, Pierre;
Leguern, Eric;
San, Chan;
Camuzat, Agnès;
Roze, Emmanuel;
Vidailhet, Marie;
Durr, Alexandra;
Brice, Alexis

Publication type:

Letter

The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 59, doi. 10.1007/s10048-010-0263-4

By:

McCarthy, Jeanette;
Linnertz, Colton;
Saucier, Laura;
Burke, James;
Hulette, Christine;
Welsh-Bohmer, Kathleen;
Chiba-Falek, Ornit

Publication type:

Article

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2

By:

Ferreira, Mariana;
Torraco, Alessandra;
Rizza, Teresa;
Fattori, Fabiana;
Meschini, Maria;
Castana, Cinzia;
Go, Nancy;
Nargang, Frank;
Duarte, Margarida;
Piemonte, Fiorella;
Dionisi-Vici, Carlo;
Videira, Arnaldo;
Vilarinho, Laura;
Santorelli, Filippo;
Carrozzo, Rosalba;
Bertini, Enrico

Publication type:

Article

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 65, doi. 10.1007/s10048-010-0269-y

By:

Schuster, Jens;
Sundblom, Jimmy;
Thuresson, Ann-Charlotte;
Hassin-Baer, Sharon;
Klopstock, Thomas;
Dichgans, Martin;
Cohen, Oren;
Raininko, Raili;
Melberg, Atle;
Dahl, Niklas

Publication type:

Article

Hydroxyurea enhances SMN2 gene expression through nitric oxide release.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 19, doi. 10.1007/s10048-010-0268-z

By:

Xu, Cheng;
Chen, Xin;
Grzeschik, Susanna;
Ganta, Madhuri;
Wang, Ching

Publication type:

Article

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 51, doi. 10.1007/s10048-010-0272-3

By:

Choi, Byung-Ok;
Kim, Nam;
Park, Sun;
Hyun, Young;
Jeon, Hyeon;
Hwang, Jung;
Chung, Ki

Publication type:

Article