Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.C26C
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GRN

NM_002087.4:p.C26C

Associated Papers

Hyper-religiosity and visual hallucinations in a patient with frontotemporal dementia carrying a double variant in GRN gene.

Morelli M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients.

Gentile G et al.

Genes, 2021

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Genetics of Parkinson's disease in the Polish population.

Milanowski ŁM et al.

Neurologia I Neurochirurgia Polska, 2021

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C et al.

Acta Neurologica Belgica, 2018

30317490 (PubMed )
Supplement: 13760_2018_1029_MOESM3_ESM.pdf

Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice.

Hosokawa M et al.

Experimental Animals, 2018

Accumulation of multiple neurodegenerative disease-related proteins in familial frontotemporal lobar degeneration associated with granulin mutation.

Hosokawa M et al.

Scientific Reports, 2017

Bipolar Disorder and Frontotemporal Dementia: An Intriguing Association.

Papazacharias A et al.

Journal of Alzheimer's Disease : Jad, 2017

Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.

Peng G et al.

Orphanet Journal of Rare Diseases, 2016

Association of progranulin polymorphism rs5848 with neurodegenerative diseases: a meta-analysis.

Chen Y et al.

Journal of Neurology, 2015

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Pletnikova O et al.

Neurobiology of Aging, 2014

Association between GRN rs5848 polymorphism and Parkinson's disease in Taiwanese population.

Chang KH et al.

Plos One, 2013

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort.

Del Bo R et al.

Neurobiology of Aging, 2011

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

Kim HJ et al.

Parkinsonism & Related Disorders, 2010

Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.

Dickson DW et al.

Neuro-degenerative Diseases, 2010

GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease.

Jasinska-Myga B et al.

European Journal of Neurology, 2009

Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.

Krüger J et al.

European Journal of Neurology, 2009

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Rademakers R et al.

Human Molecular Genetics, 2008

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J et al.

Human Mutation, 2007

PGRN mutations in northern Italy.

Borroni B et al.

Alzheimer Disease and Associated Disorders, 0

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.

Tremolizzo L et al.

Alzheimer Disease and Associated Disorders, 0

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

Meeter LH et al.

Dementia and Geriatric Cognitive Disorders Extra, 0

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