List of works - James F. Gusella

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

scientific article (publication date: August 1993)

The GPR54 gene as a regulator of puberty

scientific article (publication date: 23 October 2003)

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

A polymorphic DNA marker genetically linked to Huntington's disease

scientific article published on November 17, 1983

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus

scientific article published in February 1987

Rapid induction of Alzheimer A beta amyloid formation by zinc

scientific article published in September 1994

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease

scientific article

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

scientific article published on September 1, 1997

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor

scientific article

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

scientific article published in August 1993

Inactivation of the mouse Huntington's disease gene homolog Hdh

scientific journal article

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

scholarly article

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

scientific article published on 19 April 2012

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

scientific article published on August 1, 1998

CAG repeat number governs the development rate of pathology in Huntington's disease

scientific article published in May 1997

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

scientific article

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

scientific article published on December 1, 1997

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

scientific article

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

scientific article published on 01 August 1996

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

scientific journal article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Huntingtin interacts with a family of WW domain proteins

scientific article published on September 1, 1998

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

scientific article published in November 1984

Huntington's disease. Pathogenesis and management

scientific article published on November 1986

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

scientific article

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

scientific article

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

scientific article

Huntington disease

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

scientific article published in January 1999

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors

scientific article published on April 15, 1998

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

scientific article published in Nature

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

scientific article published on August 1986

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

scientific article published in September 1990

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

scientific article

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

article

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor

scientific article published on November 15, 1992

Clinical genetic testing for patients with autism spectrum disorders

scientific article

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

scientific article published on 01 December 1998

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins

scientific article published in July 1998

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

scientific article

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

scientific article published on 22 August 2005

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

scientific article

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

scientific article published in March 2003

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

scientific article published in Nature

Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway

scientific article published on 24 August 2009

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

scientific article

NHE-RF, a Regulatory Cofactor for Na+-H+Exchange, Is a Common Interactor for Merlin and ERM (MERM) Proteins

scientific article published on January 16, 1998

Isolation and localization of DNA segments from specific human chromosomes

scientific article

List of works by James F. Gusella

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

The GPR54 gene as a regulator of puberty

Association between microdeletion and microduplication at 16p11.2 and autism

A polymorphic DNA marker genetically linked to Huntington's disease

Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus

Rapid induction of Alzheimer A beta amyloid formation by zinc

Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor

Disruption of neurexin 1 associated with autism spectrum disorder

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Inactivation of the mouse Huntington's disease gene homolog Hdh

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

CAG repeat number governs the development rate of pathology in Huntington's disease

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Huntingtin interacts with a family of WW domain proteins

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

Huntington's disease. Pathogenesis and management

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Huntington disease

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse

Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid beta protein precursor

Clinical genetic testing for patients with autism spectrum disorders

A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription

Amyloid formation by mutant huntingtin: threshold, progressivity and recruitment of normal polyglutamine proteins

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

NHE-RF, a Regulatory Cofactor for Na+-H+Exchange, Is a Common Interactor for Merlin and ERM (MERM) Proteins

Isolation and localization of DNA segments from specific human chromosomes