Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 21

Results: 12

Intrathecal AAVrh10 corrects biochemical and histological hallmarks of mucopolysaccharidosis VII mice and improves behavior and survival.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3610, doi. 10.1093/hmg/ddz220

By:

Pagès, G;
Giménez-Llort, L;
García-Lareu, B;
Ariza, L;
Navarro, M;
Casas, C;
Chillón, M;
Bosch, A

Publication type:

Article

Molecular mechanism for the multiple sclerosis risk variant rs17594362.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3600, doi. 10.1093/hmg/ddz216

By:

Kim, Dongkyeong;
Park, Yungki

Publication type:

Article

Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3637, doi. 10.1093/hmg/ddz222

By:

Moazzeni, Hamidreza;
Mirrahimi, Mehraban;
Moghadam, Abolfazl;
Banaei-Esfahani, Amir;
Yazdani, Shahin;
Elahi, Elahe

Publication type:

Article

Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3625, doi. 10.1093/hmg/ddz208

By:

Jagtap, Smita;
Thanos, Jessica M;
Fu, Ting;
Wang, Jennifer;
Lalonde, Jasmin;
Dial, Thomas O;
Feiglin, Ariel;
Chen, Jeffrey;
Kohane, Isaac;
Lee, Jeannie T;
Sheridan, Steven D;
Perlis, Roy H

Publication type:

Article

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3543, doi. 10.1093/hmg/ddz200

By:

Rautengarten, Carsten;
Quarrell, Oliver W;
Stals, Karen;
Caswell, Richard C;
Franco, Elisa De;
Baple, Emma;
Burgess, Nadia;
Jokhi, Roobin;
Heazlewood, Joshua L;
Offiah, Amaka C;
Ebert, Berit;
Ellard, Sian

Publication type:

Article

RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase–mediated centrosomal cohesion and ciliogenesis deficits.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3552, doi. 10.1093/hmg/ddz201

By:

Ordónez, Antonio Jesús Lara;
Fernández, Belén;
Fdez, Elena;
Romo-Lozano, María;
Madero-Pérez, Jesús;
Lobbestael, Evy;
Baekelandt, Veerle;
Aiastui, Ana;
Munaín, Adolfo López de;
Melrose, Heather L;
Civiero, Laura;
Hilfiker, Sabine

Publication type:

Article

SNV identification from single-cell RNA sequencing data.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3569, doi. 10.1093/hmg/ddz207

By:

Schnepp, Patricia M;
Chen, Mengjie;
Keller, Evan T;
Zhou, Xiang

Publication type:

Article

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3528, doi. 10.1093/hmg/ddz199

By:

Kagiava, A;
Richter, J;
Tryfonos, C;
Karaiskos, C;
Heslegrave, A J;
Sargiannidou, I;
Rossor, A M;
Zetterberg, H;
Reilly, M M;
Christodoulou, C;
Kleopa, K A

Publication type:

Article

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3515, doi. 10.1093/hmg/ddz195

By:

Šoltić, Darija;
Shorrock, Hannah K;
Allardyce, Hazel;
Wilson, Emma L;
Holt, Ian;
Synowsky, Silvia A;
Shirran, Sally L;
Parson, Simon H;
Gillingwater, Thomas H;
Fuller, Heidi R

Publication type:

Article

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3680, doi. 10.1093/hmg/ddz193

By:

Han, Xikun;
Qassim, Ayub;
An, Jiyuan;
Marshall, Henry;
Zhou, Tiger;
Ong, Jue-Sheng;
Hassall, Mark M;
Hysi, Pirro G;
Foster, Paul J;
Khaw, Peng T;
Mackey, David A;
Gharahkhani, Puya;
Khawaja, Anthony P;
Hewitt, Alex W;
Craig, Jamie E;
MacGregor, Stuart

Publication type:

Article

Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3584, doi. 10.1093/hmg/ddz190

By:

Williamson, Matthew G;
Finelli, Mattéa J;
Sleigh, James N;
Reddington, Amy;
Gordon, David;
Talbot, Kevin;
Davies, Kay E;
Oliver, Peter L

Publication type:

Article

Glucosylceramide synthase silencing combined with the receptor tyrosine kinase inhibitor axitinib as a new multimodal strategy for glioblastoma.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 21, p. 3664, doi. 10.1093/hmg/ddz152

By:

Morais, Catarina M;
Cunha, Pedro P;
Melo, Tânia;
Cardoso, Ana M;
Domingues, Pedro;
Domingues, M Rosário;
Lima, Maria C Pedroso de;
Jurado, Amália S

Publication type:

Article