Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

G. Annesi · SciRah

Researcher profile · Semantic Scholar

G. Annesi

Share profile

G. Annesi — researcher profile on SciRah

h-index: 43
Works: 193
Citations: 8,003

Most-cited papers

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
M. Nalls, R. Durán, G. Lopez, M. Kurzawa-Akanbi +54 more
2013JAMA Neurology438 citations Open access
Semantic Scholar
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early‐Onset Parkinsonism
M. Quadri, M. Fang, M. Picillo, S. Olgiati +16 more
2013Human Mutation325 citations
Semantic Scholar
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Y. Feng, D. Howrigan, L. Abbott, K. Tashman +236 more
2019bioRxiv268 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
Large-scale replication and heterogeneity in Parkinson disease genetic loci
Manu Sharma, J. Ioannidis, J. Aasly, G. Annesi +50 more
2012Neurology145 citations Open access
Semantic Scholar
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Manu Sharma, J. Ioannidis, J. Aasly, G. Annesi +59 more
2012Journal of Medical Genetics110 citations Open access
Semantic Scholar
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
A. Labate, P. Tarantino, M. Viri, Laura Mumoli +5 more
2012Epilepsia96 citations
Semantic Scholar
Independent and joint effects of the MAPT and SNCA genes in Parkinson's disease
A. Elbaz, O. Ross, J. Ioannidis, A. Soto-Ortolaza +37 more
2011Annals of Neurology94 citations Open access
Semantic Scholar
Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease – a multicenter study
Malin von Otter, Petra Bergström, A. Quattrone, E. V. De Marco +11 more
2014BMC Medical Genetics79 citations Open access
Semantic Scholar
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine
S. Cestèle, A. Labate, R. Rusconi, P. Tarantino +5 more
2013Epilepsia73 citations Open access
Semantic Scholar
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease
Cloé Domenighetti, P. Sugier, A. A. Sreelatha, C. Schulte +75 more
2021Journal of Parkinson's Disease66 citations Open access
Semantic Scholar
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease
J. Theuns, A. Verstraeten, K. Sleegers, E. Wauters +48 more
2014Neurology62 citations Open access
Semantic Scholar
Genetic variants of α-synuclein are not associated with essential tremor
A. Nicoletti, G. Nicoletti, G. Arabia, G. Annesi +10 more
2011Movement Disorders60 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2024Nature Neuroscience50 citations Open access
Semantic Scholar
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium
M. Heckman, A. Soto-Ortolaza, J. Aasly, Nadine Abahuni +58 more
2013Movement Disorders46 citations Open access
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2023medRxiv44 citations Open access
Semantic Scholar
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Eva-Juliane Vollstedt, S. Schaake, K. Lohmann, S. Padmanabhan +130 more
2023Movement Disorders44 citations Open access
Semantic Scholar
Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study
Cloé Domenighetti, P. Sugier, Ashwin Ashok Kumar Sreelatha, C. Schulte +75 more
2022Movement Disorders38 citations Open access
Semantic Scholar
The protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of MAPT and SNCA variants
M. Heckman, A. Elbaz, A. Soto-Ortolaza, D. Serie +51 more
2013Neurobiology of Aging37 citations Open access
Semantic Scholar
Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.
A. Labate, P. Tarantino, Grazia Palamara, M. Gagliardi +7 more
2013Epilepsy Research33 citations
Semantic Scholar
TREM2 R47H variant and risk of essential tremor: A cross-sectional international multicenter study
S. Ortega-Cubero, O. Lorenzo-Betancor, E. Lorenzo, J. A. Agúndez +21 more
2014Parkinsonism & Related Disorders31 citations Open access
Semantic Scholar
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease
Sandeep Grover, A. Kumar-Sreelatha, L. Pihlstrøm, Cloé Domenighetti +79 more
2022Neurology30 citations Open access
Semantic Scholar
Mutational analysis of COASY in an Italian patient with NBIA.
G. Annesi, M. Gagliardi, Grazia Iannello, A. Quattrone
2016Parkinsonism & Related Disorders30 citations
Semantic Scholar
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
Lisa Wang, J. Aasly, G. Annesi, S. Bardien +51 more
2015Neurology30 citations Open access
Semantic Scholar
Dentatorubral‐pallidoluysian atrophy: Haplotype of Asian origin in 2 Italian families
P. Aridon, P. Tarantino, P. Ragonese, M. D'Amelio +9 more
2012Movement Disorders30 citations
Semantic Scholar
Investigation of shared genetic risk factors between Parkinson’s disease and cancers
P. Sugier, E. Lucotte, Cloé Domenighetti, M. Law +90 more
2023Movement Disorders28 citations Open access
Semantic Scholar
An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate
M. Quadri, Xu Yang, G. Cossu, S. Olgiati +26 more
2014Neurogenetics22 citations
Semantic Scholar
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
M. Gagliardi, G. Annesi, G. Lesca, E. Broussolle +4 more
2015Parkinsonism & Related Disorders21 citations
Semantic Scholar
DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.
M. Gagliardi, G. Annesi, R. Procopio, M. Morelli +5 more
2018Parkinsonism & Related Disorders18 citations
Semantic Scholar
A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.
M. Gagliardi, M. Morelli, G. Annesi, G. Nicoletti +6 more
2015Gene17 citations
Semantic Scholar
Fahr's Disease Linked to a Novel SLC20A2 Gene Mutation Manifesting with Dynamic Aphasia
L. Brighina, E. Saracchi, F. Ferri, M. Gagliardi +6 more
2014Neurodegenerative Diseases17 citations
Semantic Scholar
The interaction between HLA-DRB1 and smoking in Parkinson’s disease revisited
Cloé Domenighetti, Venceslas Douillard, P. Sugier, A. A. Sreelatha +76 more
2022Movement Disorders16 citations Open access
Semantic Scholar
A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy.
G. Nicoletti, M. Gagliardi, R. Procopio, Grazia Iannello +3 more
2017Parkinsonism & Related Disorders16 citations
Semantic Scholar
Alpha-synuclein REP1 variants and survival in Parkinson’s disease
Sun J. Chung, Joanna M. Biernacka, Sebastian M. Armasu, Kari Anderson +25 more
2014Movement Disorders15 citations Open access
Semantic Scholar
Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy.
M. Gagliardi, G. Annesi, P. Tarantino, G. Nicoletti +1 more
2014Neurobiology of Aging13 citations
Semantic Scholar
Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson’s disease in Southern Italy
V. Greco, E. V. De Marco, F. Rocca, F. Annesi +12 more
2011Neurological Sciences13 citations
Semantic Scholar
Lack of association between G‐protein coupled receptor kinase 5 gene and Parkinson's disease
P. Tarantino, E. V. De Marco, G. Annesi, F. Rocca +8 more
2011American Journal of Medical Genetics Part B: Neuropsychiatric Genetics13 citations
Semantic Scholar
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
D. Mei, S. Balestrini, E. Parrini, A. Gambardella +31 more
2024Journal of Medical Genetics10 citations Open access
Semantic Scholar
A familial t(4;8) translocation segregates with epilepsy and migraine with aura
M. Crippa, Paola Malatesta, M. T. Bonati, F. Trapasso +7 more
2020Annals of Clinical and Translational Neurology10 citations Open access
Semantic Scholar
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.
Grazia Iannello, C. Graziano, G. Cenacchi, D. Cordelli +7 more
2017Journal of Neurological Sciences10 citations
Semantic Scholar
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.
V. Scornaienchi, D. Civitelli, E. V. De Marco, G. Annesi +14 more
2012Parkinsonism & Related Disorders10 citations
Semantic Scholar
Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria.
M. Gagliardi, Grazia Iannello, C. Colica, G. Annesi +1 more
2017Neurobiology of Aging9 citations
Semantic Scholar
Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson’s disease: analysis of a large multi-center study
Lisa Wang, M. Heckman, J. Aasly, G. Annesi +37 more
2016Neurobiology of Aging9 citations Open access
Semantic Scholar
Generalised epilepsy with febrile seizures plus (GEFS+): molecular analysis in a restricted area
A. Polizzi, G. Incorpora, P. Pavone, M. Ruggieri +4 more
2011Child's Nervous System9 citations
Semantic Scholar
PCDH19 mutations in female patients from Southern Italy.
M. Gagliardi, G. Annesi, M. Sesta, P. Tarantino +5 more
2015Seizure8 citations Open access
Semantic Scholar
Association of Body Mass Index and Parkinson Disease
Cloé Domenighetti, P. Sugier, Ashwin Ashok Kumar Sreelatha, C. Schulte +73 more
2024Neurology7 citations Open access
Semantic Scholar
Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
R. Procopio, F. Fortunato, M. Gagliardi, Mariagrazia Talarico +5 more
2024International Journal of Molecular Sciences7 citations Open access
Semantic Scholar
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Eva-Juliane Vollstedt, H. Madoev, Anna Aasly, A. Ahmad-Annuar +79 more
2023PLoS ONE7 citations Open access
Semantic Scholar
Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.
R. Procopio, M. Gagliardi, L. Brighina, G. Nicoletti +4 more
2019Gene7 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Quattrone×28
Invite
A. Quattrone — researcher profile on SciRah
M. Gagliardi×28
Invite
M. Gagliardi — researcher profile on SciRah
G. Mellick×17
Invite
G. Mellick — researcher profile on SciRah
L. Brighina×16
Invite
L. Brighina — researcher profile on SciRah

×14

Invite

S. Lesage — researcher profile on SciRah

K. Wirdefeldt×14

Invite

K. Wirdefeldt — researcher profile on SciRah

A. Gambardella×13

Invite

A. Gambardella — researcher profile on SciRah

Manu Sharma×13

Invite

Manu Sharma — researcher profile on SciRah

Invite

J. Aasly — researcher profile on SciRah

L. Stefanis×13

Invite

L. Stefanis — researcher profile on SciRah

Invite

A. Brice — researcher profile on SciRah

P. Tarantino×12

Invite

P. Tarantino — researcher profile on SciRah