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Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association, vol 16, iss 1

IntroductionLeisure activities impact brain aging and may be prevention targets. We characterized how physical and cognitive activities relate to brain health for the first time in autosomal dominant frontotemporal lobar degeneration (FTLD).MethodsA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3382a3024107162e1b59123870066394
https://escholarship.org/uc/item/9847g4bv

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Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts

Publikováno v: Advances in Genomics and Genetics, Vol Volume 8, Pp 23-33 (2018)

Natasha ZR Steele,1,2 Alison R Bright,3 Suzee E Lee,1 Jamie C Fong,1 Luke W Bonham,1 Anna Karydas,1 Izabela D Karbassi,3 Mochtar Pribadi,4 Marc A Meservey,3 Matthew C Gallen,3 Eliana Marisa Ramos,5 Khalida Liaquat,3 Carol C Hoffman,3 Meagan R Krasner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::d69aa96492a5a925072a9c3dd338c4f6
https://www.dovepress.com/frequency-of-frontotemporal-dementia-gene-variants-in-c9orf72-mapt-and-peer-reviewed-article-AGG

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Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature

Autor: Takada, LT, Kim, MO, Cleveland, RW, Wong, K, Forner, SA, Gala, II, Fong, JC, Geschwind, MD

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short sur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::bd1a07c6f07997116d8ea5cc536669ed
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=6803

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Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier

Autor: Coppola, Giovanni, Miller, Bruce, Ng, ASL, Sias, AC, Pressman, PS, Fong, JC, Karydas, AM, Zanto, TP, De, M, Geschwind, DH, Miller, BL

Publikováno v: Coppola, Giovanni; Miller, Bruce; Ng, ASL; Sias, AC; Pressman, PS; Fong, JC; et al.(2015). Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/7kw6h7s3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::f38ca92501073628adf056ee05a16370
http://www.escholarship.org/uc/item/7kw6h7s3

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Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

Autor: Miller, Bruce, Farese, Robert, Zhang, Z, Almeida, S, Lu, Y, Nishimura, AL, Peng, L, Sun, D, Wu, B, Karydas, AM, Tartaglia, MC, Fong, JC

Publikováno v: Miller, Bruce; Farese, Robert; Zhang, Z; Almeida, S; Lu, Y; Nishimura, AL; et al.(2013). Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/9pw603w4

Transactive response DNA-binding protein 43 (TDP-43) is a major pathological protein in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). There are many disease-associated mutations in TDP-43, and several cellular and animal mode

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::79a4154ec15bc051248ab20e08b58b9e
http://www.escholarship.org/uc/item/9pw603w4

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Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

Autor: Kim, MO, Cali, I, Oehler, A, Fong, JC, Wong, K, See, T, Katz, JS, Gambetti, P, Bettcher, BM, Dearmond, SJ

Publikováno v: Kim, MO; Cali, I; Oehler, A; Fong, JC; Wong, K; See, T; et al.(2013). Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases. Acta neuropathologica communications, 1(1), 80. doi: 10.1186/2051-5960-1-80. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3762j150

A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrPSc was identified in a patient with a prolonged disease course leading to pathology-proven J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::45bfbbdcb76461c24731749342f0abe7
http://www.escholarship.org/uc/item/3762j150

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