James F. Gusella
Gusella, James F.
VIAF ID: 70441148 (Personal)
Permalink: http://viaf.org/viaf/70441148
Preferred Forms
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100 1 _
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Gusella, James F.
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100 1 0
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Gusella, James F.
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100 0 _
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James F. Gusella
4xx's: Alternate Name Forms (7)
Works
| Title | Sources |
|---|---|
| Molecular genetics of familial Alzheimer's disease |
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| Pain correlates with germline mutation in schwannomatosis |
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| Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes |
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| Patient and physician attitudes regarding clinical trials in neurofibromatosis 1. |
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| Peripherin gene is linked to keratin 18 gene on human chromosome 12 |
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| Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. |
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| Phenotypic variation in 2 Huntington's disease families with linkage to chromosome 4. |
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| Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. |
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| Physical mapping of a translocation breakpoint in neurofibromatosis |
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| Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset |
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| Potential molecular consequences of transgene integration: The R6/2 mouse example |
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| Predictive testing for Huntington's disease with use of a linked DNA marker |
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| The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor |
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| Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33 |
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| Prenatal diagnostic testing for familial dysautonomia using linked genetic markers |
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| Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients |
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| Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder |
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| Progress towards the isolation and characterization of the genes causing neurofibromatosis |
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| Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease |
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| Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease |
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| The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC. |
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| Radiation hybrid map spanning the Huntington disease gene region of chromosome 4. |
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| Rapid induction of Alzheimer A beta amyloid formation by zinc. |
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| Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation |
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| A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. |
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| Recombinant DNA techniques in the diagnosis of inherited disorders |
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| A recombination event that redefines the Huntington disease region |
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| Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig |
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| A region of deletion on chromosome 22q13 is common to human breast and colorectal cancers. |
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| Regional assignment of the erythropoietin gene to human chromosome region 7pter----q22. |
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| Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types |
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| The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. |
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| Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts. |
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| Replication of association between ELAVL4 and Parkinson disease: the GenePD study |
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| Report of the committee on the genetic constitution of chromosomes 3 and 4 |
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| Rescue of a Drosophila NF1 mutant phenotype by protein kinase A. |
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| Rescue of a human mRNA splicing defect by the plant cytokinin kinetin |
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| Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation |
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| RFLPS at the D21S19 locus of human chromosome 21. |
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| Ring chromosome 21: characterization of DNA sequences at sites of breakage and reunion |
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| RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression |
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| Role of common and rare APP DNA sequence variants in Alzheimer disease |
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| A RsaI polymorphism in the ERCC2 locus |
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| Screening for familial APP mutations in sporadic cerebral amyloid angiopathy |
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| Selection and localization of ... c1980 |
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| Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide |
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| Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3) |
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| Sequence-Level Analysis of the Major European Huntington Disease Haplotype |
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| Sequence of the voltage-gated sodium channel beta1-subunit in wild-type and in quivering mice |
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| Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21 |
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| Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region |
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| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. |
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| Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. |
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| A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription |
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| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome |
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| A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene |
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| Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice |
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| Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy |
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| Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews |
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| Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis |
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| Studies of a DNA marker (G8) genetically linked to Huntington disease in British families |
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| TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease |
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| Targeted inactivation of the mouse Huntington's disease gene homolog Hdh |
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| The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p. |
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| Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia |
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| A tiger behind many doors: multiple genetic pathways to malignant glioma |
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| Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. |
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| Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. |
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| Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. |
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| Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families |
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| Transglutaminase aggregates huntingtin into nonamyloidogenic polymers, and its enzymatic activity increases in Huntington's disease brain nuclei |
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| Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies |
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| Trinucleotide instability: a repeating theme in human inherited disorders |
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| Trinucleotide repeat length and progression of illness in Huntington's disease |
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| Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism |
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| Universal absence of merlin, but not other ERM family members, in schwannomas. |
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| Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines |
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| Valuable libraries |
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| Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset |
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| WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome |
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| WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. |
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