Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report

(2021) Marina Picillo et al.   BMC Neurology

Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes

(2020) Alexander G Murley et al.   BRAIN

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes

(2020) Marina Picillo et al.   JOURNAL OF ALZHEIMERS DISEASE

GBA ‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

(2020) Simona Petrucci et al.   MOVEMENT DISORDERS

Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy

(2020) Marina Picillo et al.   PARKINSONISM & RELATED DISORDERS

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

(2019) Manuela M.X. Tan et al.   BRAIN

Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update—I. Hypokinetic-rigid movement disorders

(2019) Kurt A. Jellinger   JOURNAL OF NEURAL TRANSMISSION

The genetic and clinico‐pathological profile of early‐onset progressive supranuclear palsy

(2019) Edwin Jabbari et al.   MOVEMENT DISORDERS

Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains

(2018) Michael J Keogh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Evidence of Pre-Synaptic Dopaminergic Deficit in a Patient with a Novel Progranulin Mutation Presenting with Atypical Parkinsonism†

(2018) Miryam Carecchio et al.   JOURNAL OF ALZHEIMERS DISEASE

The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort

(2017) Silvia Fostinelli et al.   JOURNAL OF ALZHEIMERS DISEASE

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

(2017) Miryam Carecchio et al.   NEUROGENETICS

Diagnosis and management of dementia with Lewy bodies

(2017) Ian G. McKeith et al.   NEUROLOGY

Frontotemporal dementia as the presenting phenotype of p.A53T mutation carriers in the alpha-synuclein gene

(2017) Anastasia Bougea et al.   PARKINSONISM & RELATED DISORDERS

Neuronal network disintegration: common pathways linking neurodegenerative diseases

(2016) Rebekah M Ahmed et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

Parkinsonism, movement disorders and genetics in frontotemporal dementia

(2016) José Fidel Baizabal-Carvallo et al.   Nature Reviews Neurology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

“Atypical” atypical parkinsonism: New genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-A diagnostic guide

(2013) Maria Stamelou et al.   MOVEMENT DISORDERS

Criteria for the diagnosis of corticobasal degeneration

(2013) M. J. Armstrong et al.   NEUROLOGY

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Second consensus statement on the diagnosis of multiple system atrophy

(2008) S. Gilman et al.   NEUROLOGY