M. E. Conidi

发表

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

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

A. Bruni, M. Anfossi, L. Bernardi, 2013, Journal of Alzheimer's Disease.

Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia

A. Boner, P. Simi, A. Bush, 2011, European Respiratory Journal.

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

Nick C Fox, Alan J. Thomas, D. Hernandez, 2020, Scientific Reports.

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

C. Cupidi, A. Bruni, M. Anfossi, 2014, Neurobiology of Aging.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C. Fox, Pietro Pietrini, Alexander Gerhard, 2018, Nature Medicine.

A Girl with Tomboy Behavior: Lesson from Misdiagnosis in a Baby with Ambiguous Genitalia

F. Baldinotti, P. Simi, M. E. Conidi, 2009, Sexual Development.

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

A. Bruni, L. Bernardi, M. E. Conidi, 2021, Frontiers in Genetics.

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

F. Baldinotti, A. Fogli, P. Simi, 2010, International journal of pediatric otorhinolaryngology.

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia

G. Cioni, G. Cioni, D. Borghetti, 2011, European journal of neurology.

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

Nick C Fox, Alan J. Thomas, D. Hernandez, 2021, Biological Psychiatry.

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

S. Sorbi, B. Nacmias, C. Cupidi, 2017, Neurobiology of Aging.

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

A. Boner, P. Simi, M. E. Conidi, 2010, European Respiratory Journal.

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

M. Mancuso, G. Siciliano, F. Baldinotti, 2010, Neuromuscular Disorders.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

E. Haan, P. Pietrini, R. Petersen, 2017, Scientific Reports.

D. Hernandez, M. Nalls, L. Ferrucci, 2017, bioRxiv.

Frontotemporal dementia and its subtypes: a genome-wide association study

Alexander Gerhard, Adrian Danek, Luigi Ferrucci, 2014, The Lancet Neurology.

Role of Niemann-Pick Type C Disease Mutations in Dementia.

C. Cupidi, A. Bruni, M. Anfossi, 2016, Journal of Alzheimer's disease : JAD.

Phenotypic expressions of Alzheimer’s disease: a gender perspective

C. Cupidi, A. Bruni, M. Anfossi, 2018 .

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family

C. Cupidi, A. Bruni, M. Anfossi, 2015, Neurology.

Genetics in Degenerative Dementia: Current Status and Applicability

A. Bruni, L. Bernardi, M. E. Conidi, 2014, Alzheimer disease and associated disorders.

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

E. Rogaeva, P. George-Hyslop, C. Cupidi, 2012, Neurobiology of Aging.

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

F. Baldinotti, A. Fogli, P. Simi, 2009, Human Genetics.

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia.

Nick C Fox, Alan J. Thomas, D. Hernandez, 2018, Nature Medicine.

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Nick C Fox, D. Hernandez, M. Nalls, 2017, Scientific Reports.

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

C. Cupidi, A. Bruni, M. Anfossi, 2018, Journal of Alzheimer's disease : JAD.

CXCR4 involvement in neurodegenerative diseases

O. Andreassen, G. Schellenberg, A. Dale, 2017, bioRxiv.

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

P. Pietrini, R. Desikan, J. Trojanowski, 2019, Scientific Reports.