Found: 27
Select item for more details and to access through your institution.
SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2235, doi. 10.1093/hmg/ddt612
- By:
- Publication type:
- Article
FTY720 (fingolimod) is a neuroprotective and disease-modifying agent in cellular and mouse models of Huntington disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2251, doi. 10.1093/hmg/ddt615
- By:
- Publication type:
- Article
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2447, doi. 10.1093/hmg/ddt640
- By:
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu163
- Publication type:
- Article
Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2481, doi. 10.1093/hmg/ddt619
- By:
- Publication type:
- Article
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2440, doi. 10.1093/hmg/ddt639
- By:
- Publication type:
- Article
CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2313, doi. 10.1093/hmg/ddt624
- By:
- Publication type:
- Article
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2353, doi. 10.1093/hmg/ddt637
- By:
- Publication type:
- Article
The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2428, doi. 10.1093/hmg/ddt638
- By:
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu161
- Publication type:
- Article
Imprinted expression of UBE3A in non-neuronal cells from a Prader–Willi syndrome patient with an atypical deletion.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2364, doi. 10.1093/hmg/ddt628
- By:
- Publication type:
- Article
Subscription Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu164
- Publication type:
- Article
Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2324, doi. 10.1093/hmg/ddt625
- By:
- Publication type:
- Article
Cohen syndrome is associated with major glycosylation defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
- By:
- Publication type:
- Article
Smoke-related DNA methylation changes in the etiology of human disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2290, doi. 10.1093/hmg/ddt621
- By:
- Publication type:
- Article
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2266, doi. 10.1093/hmg/ddt617
- By:
- Publication type:
- Article
Endoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2468, doi. 10.1093/hmg/ddt642
- By:
- Publication type:
- Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2279, doi. 10.1093/hmg/ddt618
- By:
- Publication type:
- Article
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459
- By:
- Publication type:
- Article
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2339, doi. 10.1093/hmg/ddt627
- By:
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. NP, doi. 10.1093/hmg/ddu162
- Publication type:
- Article
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2498
- By:
- Publication type:
- Article
Defining the action spectrum of potential PGC-1α activators on a mitochondrial and cellular level in vivo.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2400, doi. 10.1093/hmg/ddt631
- By:
- Publication type:
- Article
Compromised paraspeckle formation as a pathogenic factor in FUSopathies.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2298, doi. 10.1093/hmg/ddt622
- By:
- Publication type:
- Article
Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2374, doi. 10.1093/hmg/ddt629
- By:
- Publication type:
- Article
DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2490
- By:
- Publication type:
- Article
Dysregulation of T cell receptor N-glycosylation: a molecular mechanism involved in ulcerative colitis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2416, doi. 10.1093/hmg/ddt632
- By:
- Publication type:
- Article