I. Guella

发表

Schizophrenia miR-137 Locus Risk Genotype Is Associated with Dorsolateral Prefrontal Cortex Hyperactivation

Michele T. Diaz, Gregory G. Brown, A. Belger, 2014, Biological Psychiatry.

Identification of pathways for bipolar disorder: a meta-analysis.

Daniel L. Koller, J. Nurnberger, J. Kelsoe, 2014, JAMA psychiatry.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

I. Scheffer, L. Lagae, G. Cooper, 2020, Epilepsia.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

M. Farrer, I. Guella, C. V. van Karnebeek, 2017, bioRxiv.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

M. Farrer, I. Guella, M. Demos, 2017, American journal of human genetics.

Poster Session II

W. Bunney, I. Guella, E. Domino, 2012, Neuropsychopharmacology.

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab‐Berber population

M. Farrer, I. Guella, J. Trinh, 2014, European journal of neurology.

No association of GBA mutations and multiple system atrophy

D. Berg, T. Gasser, W. Poewe, 2013, European journal of neurology.

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

M. Farrer, A. Rajput, A. Rajput, 2015, Brain : a journal of neurology.

Conjugal parkinsonism is coincidental.

M. Farrer, A. Rajput, C. Robinson, 2016, Parkinsonism & related disorders.

DNAJC12 and dopa‐responsive nonprogressive parkinsonism

V. Sossi, A. Priori, N. Hattori, 2017, Annals of neurology.

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit.

M. Farrer, L. Lynd, H. Osiovich, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

M. Farrer, I. Guella, C. V. van Karnebeek, 2019, Frontiers in neurology.

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

I. Guella, R. Cilia, S. Duga, 2012, Movement disorders : official journal of the Movement Disorder Society.

The PDXK rs2010795 variant is not associated with Parkinson disease in Italy

I. Guella, S. Duga, G. Pezzoli, 2010, Annals of neurology.

Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

M. Farrer, P. Silburn, I. Guella, 2021, Genes.

Schizophrenia miR-137 Locus Risk Genotype is Associated with DLPFC Hyperactivation

Michele T. Diaz, Gregory G. Brown, A. Belger, 2015 .

Neurobehavioral characterization of adult-onset Alexander disease: A family study.

M. Farrer, H. Feldman, S. Hayden, 2017, Neurology. Clinical practice.

LRRK2-Related Parkinson Disease

M. Farrer, I. Guella, J. Trinh, 2014 .

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

I. Guella, S. Duga, M. Platé, 2014, Thrombosis and Haemostasis.

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late‐onset Parkinson's disease

S. Bardien, I. Guella, J. Carr, 2016, Movement disorders : official journal of the Movement Disorder Society.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect

I. Guella, S. Duga, G. Castaman, 2008, Thrombosis and Haemostasis.

Factor XI deficiency in Southern Iran: identification of a novel missense mutation

I. Guella, F. Peyvandi, M. Karimi, 2009, Annals of Hematology.

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern

I. Guella, S. Duga, F. Peyvandi, 2008, Haematologica.

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency

I. Guella, S. Duga, F. Peyvandi, 2012, Haemophilia : the official journal of the World Federation of Hemophilia.

Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex.

R. Myers, S. Potkin, T. V. van Erp, 2013, Journal of psychiatric research.

Glucocerebrosidase mutations in primary parkinsonism

I. Guella, V. Rimoldi, R. Cilia, 2014, Parkinsonism & related disorders.

Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.

M. Farrer, P. Silburn, I. Guella, 2018, Parkinsonism & related disorders.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

M. Farrer, R. Person, S. Naidu, 2017, American journal of human genetics.

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

I. Guella, V. Rimoldi, S. Duga, 2010, Blood.

DNAJC13 genetic variants in parkinsonism

Martin J. McKeown, A. Rajput, A. Rajput, 2015, Movement disorders : official journal of the Movement Disorder Society.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges

M. Farrer, A. Synnes, H. Osiovich, 2019, European Journal of Pediatrics.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy

M. Farrer, I. Guella, C. V. van Karnebeek, 2017, bioRxiv.

Defining neurodegeneration on Guam by targeted genomic sequencing

D. Dickson, I. Guella, H. Morris, 2015, Annals of neurology.

α‐synuclein genetic variability: A biomarker for dementia in Parkinson disease

Ekaterina Nosova, Irene Litvan, Laura Parkkinen, 2016, Annals of neurology.

Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations

I. Guella, C. Boelman, E. Roland, 2019, BMC Medical Genetics.

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

I. Guella, V. Rimoldi, S. Duga, 2009, Neurobiology of Aging.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

M. Farrer, I. Guella, M. Demos, 2017, Pediatric neurology.

Genetic variability of the retromer cargo recognition complex in parkinsonism

Martin J. McKeown, A. Rajput, A. Rajput, 2015, Movement disorders : official journal of the Movement Disorder Society.

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

M. Farrer, Y. T. Wang, I. Guella, 2019, Molecular Brain.

DCTN1 p.K56R in progressive supranuclear palsy.

Martin J. McKeown, M. Farrer, A. Rajput, 2016, Parkinsonism & related disorders.

Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide

I. Guella, M. Demos, A. Michoulas, 2019, Journal of child neurology.

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

S. Kathiresan, D. Ardissino, I. Guella, 2010, Journal of Lipid Research.

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population

Flora Peyvandi, Diego Ardissino, Stefano Duga, 2011, Thrombosis and Haemostasis.

Parkinson's disease, genetic variability and the Faroe Islands.

M. Farrer, I. Guella, E. Gustavsson, 2015, Parkinsonism & related disorders.

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

M. Farrer, I. Guella, A. Lehman, 2018, Journal of movement disorders.

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

I. Guella, S. Duga, S. Goldwurm, 2012, Parkinsonism & related disorders.

Disease penetrance of late-onset parkinsonism: a meta-analysis.

M. Farrer, I. Guella, J. Trinh, 2014, JAMA neurology.

Functional impairment of cortical AMPA receptors in schizophrenia

W. Bunney, M. Vawter, F. Macciardi, 2020, Schizophrenia Research.

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism

M. Farrer, N. Hattori, A. Brice, 2018, Front. Neurol..

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease

S. Kathiresan, D. Ardissino, P. Mannucci, 2010, Journal of thrombosis and haemostasis : JTH.

Conjugal parkinsonism - Clinical, pathology and genetic study. No evidence of person-to-person transmission.

M. Farrer, A. Rajput, C. Robinson, 2016, Parkinsonism & Related Disorders.

Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex

L. DeLisi, R. Myers, H. Akil, 2014, Schizophrenia Research.

Association and Functional Analyses of MEF2A as a Susceptibility Gene for Premature Myocardial Infarction and Coronary Artery Disease

D. Girelli, N. Martinelli, D. Ardissino, 2009, Circulation. Cardiovascular genetics.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

G. Cooper, M. Farrer, I. Guella, 2016, Neurology: Genetics.

TMEM230 is not a gene for Parkinson’s disease

M. Farrer, I. Guella, A. Milnerwood, 2017, bioRxiv.

Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease.

J. Sinsheimer, M. Farrer, B. Ritz, 2017, Parkinsonism & related disorders.

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

I. Guella, S. Duga, M. Platé, 2015, Thrombosis and Haemostasis.

Allelic imbalance associated with the schizophrenia risk SNP rs1344706 indicates a cis-acting variant in ZNF804A

M. Vawter, I. Guella, 2014, Schizophrenia Research.

Response: Further thoughts on the “phantom” Δ6/7 FXI isoform

I. Guella, V. Rimoldi, S. Duga, 2010 .

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency

I. Guella, S. Duga, R. Asselta, 2011, Thrombosis and Haemostasis.

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family

I. Guella, J. Choi, R. Asselta, 2009, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Glucocerebrosidase mutations in primary parkinsonism

I. Guella, V. Rimoldi, R. Cilia, 2014, Parkinsonism & related disorders.

Novel LRRK2 mutations in Parkinsonism.

Martin J. McKeown, M. Farrer, A. Rajput, 2015, Parkinsonism & Related Disorders.

SCA2 family presenting as typical Parkinson's disease: 34 year follow up.

Young Eun Kim, I. Guella, S. Park, 2017, Parkinsonism & related disorders.