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Academic Journal

Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.

  • Authors : Kong HE; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322.; Lim J

Subjects: Ataxia*/Ataxia*/Ataxia*/genetics ; Fragile X Syndrome*/Fragile X Syndrome*/Fragile X Syndrome*/genetics ; Proteasome Endopeptidase Complex*/Proteasome Endopeptidase Complex*/Proteasome Endopeptidase Complex*/genetics Fragile X Tremor Ataxia Syndrome

  • Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 May 31; Vol. 119 (22), pp. e2118124119. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms.

  • Authors : Hunter JE; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.; Leslie M

Subjects: Anxiety/Anxiety/Anxiety/*genetics ; Depression/Depression/Depression/*genetics ; Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/*genetics

  • Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.

  • Authors : Hunter JE; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.; Epstein MP

Subjects: Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/*genetics ; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics ; Menopause/Menopause/Menopause/*genetics

  • Source: Genetic epidemiology [Genet Epidemiol] 2008 Sep; Vol. 32 (6), pp. 553-9.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8411723 Publication Model: Print Cited Medium: Internet ISSN: 1098-2272

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Academic Journal

Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors.

  • Authors : Nakamoto M; Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Atlanta, GA 30322, USA.; Nalavadi V

Subjects: Gene Expression Regulation*; Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/*genetics ; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics

  • Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2007 Sep 25; Vol. 104 (39), pp. 15537-42. Date of Electronic Publication: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Print

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Academic Journal

Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.

Subjects: LOCUS (Genetics); ATAXIA; FRAGILE X syndrome

  • Source: Proceedings of the National Academy of Sciences of the United States of America; 5/31/2022, Vol. 119 Issue 22, p1-10, 24p

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