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Pubblicazioni
HUMAN MOLECULAR GENETICS
Rivista
Codice:
E078692
ISSN:
0964-6906
Dati Generali
Dati Generali
Pubblicazioni (58)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease
Articolo
A frequent oligogenic involvement in congenital hypothyroidism
Articolo
A mouse model for valproate teratogenicity: parental effects, homeotic transformations, and altered HOX expression
Articolo
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility
Articolo
A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin
Articolo
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere
Articolo
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure
Articolo
ALS mouse model SOD1G93A displays early pathology of sensory small fibers associated to accumulation of a neurotoxic splice variant of peripherin
Articolo
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.
Articolo
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics
Articolo
Applications of gene therapy to the CNS
Articolo
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
Articolo
Bcl-2/adenovirus E1B 19-kDa interacting protein (BNip3) has a key role in the mitochondrial dysfunction induced by mutant huntingtin
Articolo
BlocK of Autophagy in Lysosomal Storage Disorders
Articolo
CLONING AND EXPRESSION OF THE MURINE HOMOLOG OF A PUTATIVE HUMAN X-LINKED NUCLEAR-PROTEIN GENE CLOSELY LINKED TO PGK1 IN XQ13.3
Articolo
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
Articolo
Cloning and characterization of a new human Xq13 gene, encoding a putative helicase
Articolo
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy
Articolo
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension
Articolo
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
Articolo
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
Articolo
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
Articolo
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.
Articolo
Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21
Articolo
Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11
Articolo
Excess of high activity monoamine oxidase A gene promoter alleles in female patients with panic disorder
Articolo
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis
Articolo
Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor
Articolo
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration
Articolo
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Articolo
Impaired PGC-1alpha function in muscle in Huntington's disease.
Articolo
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation
Articolo
Linkage analysius of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F
Articolo
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
Articolo
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
Articolo
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia
Articolo
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
Articolo
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44
Articolo
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
Articolo
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
Articolo
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
Articolo
Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb
Articolo
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model.
Articolo
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation
Articolo
SIK1 localizes with nephrin in glomerular podocytes and its polymorphism predicts kidney injury
Articolo
SYN1 loss-of-function mutations in ASD and partial epilepsy cause impaired synaptic function
Articolo
SYN2 is an Autism Predisposing Gene: Loss-of-function Mutations Alter Synaptic Vesicle Cycling and Axon Outgrowth.
Articolo
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
Articolo
The CTLA-4 gene region contains a mutation that predisposes to type 1 diabetes
Articolo
The Ocular Albinism Type 1 (Oa1) Protein, an intracellular G Protein-Coupled receptor, regulates melanosome transport in pigment cells
Articolo
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast
Articolo
The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development
Articolo
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
Articolo
The preliminary transcript map of a human skeletal muscle RID E-2182-2011 RID G-8211-2011
Articolo
Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy
Articolo
Two murine and human homologs of mab-21, a cell fate determination gene involved in Caenorhabditis elegans neural development
Articolo
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
Articolo
Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models
Articolo
No Results Found
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