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A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family

Frontiers in genetics, 2021-11, Vol.12, p.795029-795029

2021

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Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Nature Medicine, 2019-01, Vol.25 (1), p.152-164

2019

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Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Biological psychiatry (1969), 2023-05, Vol.93 (9), p.770-779

2023

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Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Biological psychiatry (1969), 2021-04, Vol.89 (8), p.825-835

2021

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Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Scientific reports, 2020-07, Vol.10 (1), p.12184-12184, Article 12184

2020

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Role of Niemann-Pick Type C Disease Mutations in Dementia

Journal of Alzheimer's disease, 2017-01, Vol.55 (3), p.1249-1259

2017

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Angela R.: a familial Alzheimer’s disease case in the days of Auguste D

Journal of neurology, 2016-12, Vol.263 (12), p.2494-2498

2016

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Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy

Neurobiology of aging, 2012-12, Vol.33 (12), p.2948.e1-2948.e10

2012

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Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia

Journal of Alzheimer's disease, 2018-01, Vol.61 (3), p.1179-1187

2018

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Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

Neurobiology of aging, 2014-11, Vol.35 (11), p.2657.e7-2657.e11

2014

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Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

Journal of Alzheimer's disease, 2013-01, Vol.37 (2), p.285-289

2013

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Gene symbol: JAG1. Disease: Alagille syndrome

Human genetics, 2008-10, Vol.124 (3), p.321-322

2008

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A new truncating MPZ mutation associated with a very mild CMT1 B phenotype

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.817-819

2010

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Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant

Human genetics, 2009-08, Vol.126 (2), p.340-340

2009

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Epidemiology and genetics of FTD: a door-to-door survey in Southern Italy

Neurobiology of aging, 2012-07, Vol.33 (12), p.2948.e1-2948.e10

2012

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Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant

Human genetics, 2009-08, Vol.126 (2), p.341-341

2009

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Gene symbol: CHD7. Disease: CHARGE syndrome

Human genetics, 2008-06, Vol.123 (5), p.549-549

2008

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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

International journal of pediatric otorhinolaryngology, 2010-12, Vol.74 (12), p.1441-1444

2010

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Gene symbol: JAG1. Disease: Alagille syndrome

Human genetics, 2008-10, Vol.124 (3), p.322-322

2008

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Gene symbol: JAG1. Disease: Alagille syndrome

Human genetics, 2008-10, Vol.124 (3), p.322

2008

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Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

Journal of Alzheimer's disease, 2014-01, Vol.38 (2), p.351-357

2014

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Nursing Communication as a Tool for Patient Satisfaction. A Single Hospital Survey

The open nursing journal, 2019-12, Vol.13 (1), p.220-227

2019

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Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms

Leukemia research, 2008-01, Vol.32 (1), p.49-53

2008

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A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

Role of Niemann-Pick Type C Disease Mutations in Dementia

Angela R.: a familial Alzheimer’s disease case in the days of Auguste D

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in Southern Italy

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia

Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome

The novel PSEN1 M84V mutation associated to frontal disexecutive syndrome, spastic paraparesis and cerebellar atrophy in a dominant Alzheimer’s disease family

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation

Gene symbol: JAG1. Disease: Alagille syndrome

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant

Epidemiology and genetics of FTD: a door-to-door survey in Southern Italy

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant

Gene symbol: CHD7. Disease: CHARGE syndrome

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome

Gene symbol: JAG1. Disease: Alagille syndrome

Gene symbol: JAG1. Disease: Alagille syndrome

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population

Nursing Communication as a Tool for Patient Satisfaction. A Single Hospital Survey

Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms

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