Skip to Main Content

Author Details

Isabella Moroni
Fondazione IRCCS Istituto Neurologico Carlo Besta
1990
165
43
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37853291Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).Neurol Sci2024
36203352Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.Ann Neurol2023
37510298NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.Genes (Basel)2023
37046037FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.Neurol Sci2023
37380432Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.Neurology2023
37170966Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.Eur J Neurol2023
37038312Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.Eur J Neurol2023
37301203Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.Am J Hum Genet2023
34010585Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.Disabil Rehabil2022
35428369Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Acta Neuropathol Commun2022
35416371Validation of the Italian version of the pediatric CMT quality of life outcome measure.J Peripher Nerv Syst2022
35386286Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.Front Genet2022
36793651Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.Acta Myol2022
35904184The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.Neuropathol Appl Neurobiol2022
35150352Correction to: Kearnsâ¿¿Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.Neurol Sci2022
35031921Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.Neurol Sci2022
35269765Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.Int J Mol Sci2022
35140138Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease.J Neurol Neurosurg Psychiatry2022
34140924Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.Front Neurol2021
33573884Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.Neuromuscul Disord2021
33665847THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.Mov Disord2021
34950187Parental Somatic Mosaicism Uncovers Inheritance of an Apparently <i>De Novo GFAP</i> Mutation.Front Genet2021
34865968Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.Mol Genet Metab2021
34493614Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.Neurology2021
34542403SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.Elife2021
34627336Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.Orphanet J Rare Dis2021
33964137Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.Brain2021
34065803Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.J Clin Med2021
32394473Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.J Peripher Nerv Syst2020
31814314RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.Ann Clin Transl Neurol2020
31900734Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.Neurogenetics2020
32047073A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.Neurology2020
32108034The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.Cancer Genomics Proteomics2020
33460031More than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.Br J Haematol2020
33193651A Recurrent Pathogenic Variant of <i>INPP5K</i> Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.Front Genet2020
32936536Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.Mol Genet Genomic Med2020
32904925Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.Acta Myol2020
32762141Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.Ann Clin Transl Neurol2020
32815244Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.J Peripher Nerv Syst2020
32363625Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.Muscle Nerve2020
30528446Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.Eur J Med Genet2019
31344879Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.Int J Mol Sci2019
31130681Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.J Clin Med2019
31102535Epileptic phenotypes in children with early-onset mitochondrial diseases.Acta Neurol Scand2019
31040037Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.Neuromuscul Disord2019
30801875Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.Hum Mutat2019
30826161Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.Mol Genet Metab2019
31026080Balance impairment in pediatric charcot-marie-tooth disease.Muscle Nerve2019
30649217Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.Brain2019
29314548Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.Hum Mutat2018
  • 1 - 50 of 165

Recommended Authors

Hernan Gonorazky
The Hospital for Sick Children, University of Toronto
Career Start Year 2014
Number of shared co-authors 3
Laila Selim
Cairo University
Career Start Year 2012
Number of shared co-authors 22
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 2011
Number of shared co-authors 28
Susan Byrne
Royal College of Surgeons in Ireland
Career Start Year 2010
Number of shared co-authors 1
Renske Oegema
University Medical Center Utrecht.
Career Start Year 2010
Number of shared co-authors 10
Amy Goldstein
Children's Hospital of Philadelphia
Career Start Year 2008
Number of shared co-authors 21
Marios Kaliakatsos
Great Ormond Street Hospital for Children
Career Start Year 2006
Number of shared co-authors 6
Parayil Sankaran Bindu
National Institute of Mental Health and Neurosciences (NIMHANS)
Career Start Year 2005
Number of shared co-authors 15
James M Polke
National Hospital for Neurology and Neurosurgery
Career Start Year 2005
Number of shared co-authors 13
May Christine V Malicdan
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2005
Number of shared co-authors 4
Tawfeg Ben-Omran
Hamad Medical Corporation.
Career Start Year 2005
Number of shared co-authors 29
Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Career Start Year 2004
Number of shared co-authors 20
Paula Garcia
Hospital Pediatrico de Coimbra
Career Start Year 2004
Number of shared co-authors 4
Wojciech Wiszniewski
Oregon Health & Sciences University
Career Start Year 1998
Number of shared co-authors 7
Fernando Scaglia
Baylor College of Medicine
Career Start Year 1998
Number of shared co-authors 9
Hugh J McMillan
Montreal Children's Hospital, McGill University
Career Start Year 1997
Number of shared co-authors 6
Mark R Davis
QEII Medical Centre, Hospital Avenue
Career Start Year 1996
Number of shared co-authors 10
Shamima Rahman
UCL Great Ormond Street Institute of Child Health
Career Start Year 1994
Number of shared co-authors 16
Andrea H N??meth
University of Oxford
Career Start Year 1993
Number of shared co-authors 16
Peter Hedera
University of Louisville
Career Start Year 1992
Number of shared co-authors 1
Annette Feigenbaum
Rady Children's Hospital and The University of California
Career Start Year 1990
Number of shared co-authors 9
Siddharth Banka
University of Manchester
Career Start Year 1986
Number of shared co-authors 19
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1986
Number of shared co-authors 11
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Career Start Year 1985
Number of shared co-authors 7
Kathryn N North
Murdoch Children's Research Institute
Career Start Year 1984
Number of shared co-authors 13
Basil T Darras
Boston Children's Hospital, Harvard Medical School
Career Start Year 1983
Number of shared co-authors 12
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Career Start Year 1981
Number of shared co-authors 18
Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Career Start Year 1978
Number of shared co-authors 14
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Career Start Year 1969
Number of shared co-authors 22
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Career Start Year 1963
Number of shared co-authors 26

Collaborators

Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 42
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 14
Richard S Finkel
Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital
Co-authored papers 12
Nardo Nardocci
Co-authored papers 12
Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 10
Marco Tartaglia
Co-authored papers 5
Enza Maria Valente
University of Pavia
Co-authored papers 4
Tim M Strom
Co-authored papers 4
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 4
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 3
Stephan Z??chner
Hussman Institute for Human Genomics, University of Miami
Co-authored papers 3
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Co-authored papers 3
Romina Romaniello
IRCCS Mondino Foundation
Co-authored papers 3
Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 3
Thomas Wieland
Co-authored papers 2
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 2
Robert McFarland
Newcastle University
Co-authored papers 2
Robert Sean Hill
Co-authored papers 2
Renato Borgatti
University of Pavia
Co-authored papers 2
Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Tommaso Mazza
Fondazione IRCCS Casa Sollievo della Sofferenza,71013
Co-authored papers 2
Jennifer N Partlow
Boston Children's Hospital
Co-authored papers 2
Johannes A Mayr
University Children's Hospital, Paracelsus Medical University
Co-authored papers 2
Marica Eoli
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 2
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 2
Kathryn M Refshauge
The University of Sydney
Co-authored papers 2
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2
Marta Romani
Sapienza University of Rome
Co-authored papers 2
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 1
Eugen Boltshauser
Children's University Hospital
Co-authored papers 1
Release 1.2