Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 8

Results: 23

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Published in:: Human Molecular Genetics, 2013, v. 22, n. 8, p. NP, doi. 10.1093/hmg/ddt140
Publication type:: Article

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1581, doi. 10.1093/hmg/ddt008

By:

Prause, J.;
Goswami, A.;
Katona, I.;
Roos, A.;
Schnizler, M.;
Bushuven, E.;
Dreier, A.;
Buchkremer, S.;
Johann, S.;
Beyer, C.;
Deschauer, M.;
Troost, D.;
Weis, J.

Publication type:

Article

Subcortical dopaminergic deficits in a DISC1 mutant model: a study in direct reference to human molecular brain imaging.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1574, doi. 10.1093/hmg/ddt007

By:

Jaaro-Peled, Hanna;
Niwa, Minae;
Foss, Catherine A.;
Murai, Rina;
de los Reyes, Samantha;
Kamiya, Atsushi;
Mateo, Yolanda;
O'Donnell, Patricio;
Cascella, Nicola G.;
Nabeshima, Toshitaka;
Guilarte, Tomás R.;
Pomper, Martin G.;
Sawa, Akira

Publication type:

Article

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1615, doi. 10.1093/hmg/ddt011

By:

Montioli, Riccardo;
Oppici, Elisa;
Cellini, Barbara;
Roncador, Alessandro;
Dindo, Mirco;
Voltattorni, Carla Borri

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 8, p. NP, doi. 10.1093/hmg/ddt138
Publication type:: Article

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1696

By:

Keller, Margaux F.;
Saad, Mohamad;
Bras, Jose;
Bettella, Francesco;
Nicolaou, Nayia;
Simón-Sánchez, Javier;
Mittag, Florian;
Büchel, Finja;
Sharma, Manu;
Gibbs, J. Raphael;
Schulte, Claudia;
Moskvina, Valentina;
Durr, Alexandra;
Holmans, Peter;
Kilarski, Laura L.;
Guerreiro, Rita;
Hernandez, Dena G.;
Brice, Alexis;
Ylikotila, Pauli;
Stefánsson, Hreinn

Publication type:

Article

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015

By:

Twigg, Stephen R.F.;
Babbs, Christian;
van den Elzen, Marijke E.P.;
Goriely, Anne;
Taylor, Stephen;
McGowan, Simon J.;
Giannoulatou, Eleni;
Lonie, Lorne;
Ragoussis, Jiannis;
Akha, Elham Sadighi;
Knight, Samantha J.L.;
Zechi-Ceide, Roseli M.;
Hoogeboom, Jeannette A.M.;
Pober, Barbara R.;
Toriello, Helga V.;
Wall, Steven A.;
Rita Passos-Bueno, M.;
Brunner, Han G.;
Mathijssen, Irene M.J.;
Wilkie, Andrew O.M.

Publication type:

Article

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514

By:

Dieterich, Klaus;
Quijano-Roy, Susana;
Monnier, Nicole;
Zhou, Jie;
Fauré, Julien;
Smirnow, Daniela Avila;
Carlier, Robert;
Laroche, Cécile;
Marcorelles, Pascale;
Mercier, Sandra;
Mégarbané, André;
Odent, Sylvie;
Romero, Norma;
Sternberg, Damien;
Marty, Isabelle;
Estournet, Brigitte;
Jouk, Pierre-Simon;
Melki, Judith;
Lunardi, Joël

Publication type:

Article

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1643, doi. 10.1093/hmg/ddt014

By:

Lorenz, Sybille;
Lissewski, Christina;
Simsek-Kiper, Pelin O.;
Alanay, Yasemin;
Boduroglu, Koray;
Zenker, Martin;
Rosenberger, Georg

Publication type:

Article

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1697, doi. 10.1093/hmg/ddt046

By:

Gegg, Matthew E.;
Mark Cooper, J.;
Chau, Kai-Yin;
Rojo, Manuel;
Schapira, Anthony H.V.;
Taanman, Jan-Willem

Publication type:

Article

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1507

By:

Valdés-Sánchez, Lourdes;
De la Cerda, Berta;
Diaz-Corrales, Francisco J.;
Massalini, Simone;
Chakarova, Christina F.;
Wright, Alan F.;
Bhattacharya, Shomi S.

Publication type:

Article

S/MAR-containing DNA nanoparticles promote persistent RPE gene expression and improvement in RPE65-associated LCA.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1632, doi. 10.1093/hmg/ddt013

By:

Koirala, Adarsha;
Makkia, Rasha S.;
Conley, Shannon M.;
Cooper, Mark J.;
Naash, Muna I.

Publication type:

Article

Mislocalization of neuronal mitochondria reveals regulation of Wallerian degeneration and NMNAT/WLDS-mediated axon protection independent of axonal mitochondria.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1601, doi. 10.1093/hmg/ddt009

By:

Kitay, Brandon M.;
McCormack, Ryan;
Wang, Yunfang;
Tsoulfas, Pantelis;
Zhai, R. Grace

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 8, p. NP, doi. 10.1093/hmg/ddt139
Publication type:: Article

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1663

By:

Ganesh, Santhi K.;
Tragante, Vinicius;
Guo, Wei;
Guo, Yiran;
Lanktree, Matthew B.;
Smith, Erin N.;
Johnson, Toby;
Castillo, Berta Almoguera;
Barnard, John;
Baumert, Jens;
Chang, Yen-Pei Christy;
Elbers, Clara C.;
Farrall, Martin;
Fischer, Mary E.;
Franceschini, Nora;
Gaunt, Tom R.;
Gho, Johannes M.I.H.;
Gieger, Christian;
Gong, Yan;
Isaacs, Aaron

Publication type:

Article

Accumulation of the parkin substrate, FAF1, plays a key role in the dopaminergic neurodegeneration.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1558, doi. 10.1093/hmg/ddt006

By:

Sul, Jee-Won;
Park, Min-Young;
Shin, Juhee;
Kim, Young-Ran;
Yoo, Sung-Eun;
Kong, Young-Yun;
Kwon, Ki-Sun;
Lee, Young Ho;
Kim, Eunhee

Publication type:

Article

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1625, doi. 10.1093/hmg/ddt012

By:

Sparrow, Duncan B.;
McInerney-Leo, Aideen;
Gucev, Zoran S.;
Gardiner, Brooke;
Marshall, Mhairi;
Leo, Paul J.;
Chapman, Deborah L.;
Tasic, Velibor;
Shishko, Abduhadi;
Brown, Matthew A.;
Duncan, Emma L.;
Dunwoodie, Sally L.

Publication type:

Article

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002

By:

Godler, David E.;
Inaba, Yoshimi;
Shi, Elva Z.;
Skinner, Cindy;
Bui, Quang M.;
Francis, David;
Amor, David J.;
Hopper, John L.;
Loesch, Danuta Z.;
Hagerman, Randi J.;
Schwartz, Charles E.;
Slater, Howard R.

Publication type:

Article

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1539, doi. 10.1093/hmg/ddt005

By:

Diaper, Danielle C.;
Adachi, Yoshitsugu;
Sutcliffe, Ben;
Humphrey, Dickon M.;
Elliott, Christopher J.H.;
Stepto, Alan;
Ludlow, Zoe N.;
Vanden Broeck, Lies;
Callaerts, Patrick;
Dermaut, Bart;
Al-Chalabi, Ammar;
Shaw, Christopher E.;
Robinson, Iain M.;
Hirth, Frank

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 8, p. NP, doi. 10.1093/hmg/ddt137
Publication type:: Article

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1525, doi. 10.1093/hmg/ddt003

By:

Lawlor, Michael W.;
Armstrong, Dustin;
Viola, Marissa G.;
Widrick, Jeffrey J.;
Meng, Hui;
Grange, Robert W.;
Childers, Martin K.;
Hsu, Cynthia P.;
O'Callaghan, Michael;
Pierson, Christopher R.;
Buj-Bello, Anna;
Beggs, Alan H.

Publication type:

Article

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1493, doi. 10.1093/hmg/dds562

By:

Ng, Aubree A.;
Logan, Anne M.;
Schmidt, Eric J.;
Robinson, Fred L.

Publication type:

Article

A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1679, doi. 10.1093/hmg/ddt004

By:

Shen, Ying;
Yan, Yuanlong;
Liu, Yunqiang;
Zhang, Sizhong;
Yang, Dong;
Zhang, Peng;
Li, Lei;
Wang, Yan;
Ma, Yongxin;
Tao, Dachang;
Yang, Yuan

Publication type:

Article