Author: "Giacomo P. Comi" - OpacWWW

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Title:: SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Authors:: Giacomo Bitetto
Gianluca Lopez
Dario Ronchi
Alessandra Pittaro
Valentina Melzi
Erika Peverelli
Fulvia Milena Cribiù
Giacomo P. Comi
Giovanna Mantovani
Alessio Di Fonzo; Show more
Subject Terms:: Allgrove syndrome
Adrenal cortex
Adrenal insufficiency
PKA
SCARB1
Medicine
Source:: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
File Description:: electronic resource
Relation:: https://doaj.org/toc/1750-1172
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Title:: Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
Authors:: Giulietta Maria Riboldi
Ricardo A. Vialle
Elisa Navarro
Evan Udine
Katia de Paiva Lopes
Jack Humphrey
Amanda Allan
Madison Parks
Brooklyn Henderson
Kelly Astudillo
Charalambos Argyrou
Maojuan Zhuang
Tamjeed Sikder
J. Oriol Narcis
Shilpa Dilip Kumar
William Janssen
Allison Sowa
Giacomo P. Comi
Alessio Di Fonzo
John F. Crary
Steven J. Frucht
Towfique Raj; Show more
Subject Terms:: Parkinson’s disease
Monocytes
GBA
beta-glucocerebrosidase
Transcriptomic analysis
Neurology. Diseases of the nervous system
RC346-429
Geriatrics
RC952-954.6
Source:: Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-17 (2022)
File Description:: electronic resource
Relation:: https://doaj.org/toc/1750-1326
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Title:: Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
Authors:: Michela Ripolone
Daniele Velardo
Stefania Mondello
Simona Zanotti
Francesca Magri
Elisa Minuti
Sara Cazzaniga
Francesco Fortunato
Patrizia Ciscato
Francesca Tiberio
Monica Sciacco
Maurizio Moggio
Paolo Bettica
Giacomo P. Comi; Show more
Subject Terms:: Histology
Becker muscular distrophy
Muscle biopsies
Fibrosis
Neurology. Diseases of the nervous system
RC346-429
Source:: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-12 (2022)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2051-5960
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Title:: Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
Authors:: Francesca Spagnolo
Edoardo Monfrini
Vincenza Pinto
Giovanni Di Maggio
Paolo De Marco
Giacomo P. Comi
Augusto Rini
Alessio Di Fonzo; Show more
Subject Terms:: SYNE1
ARCA
Ataxia
Spasticity
Tremor
Neurology. Diseases of the nervous system
RC346-429
Source:: Clinical Parkinsonism & Related Disorders, Vol 9, Iss , Pp 100205- (2023)
File Description:: electronic resource
Relation:: http://www.sciencedirect.com/science/article/pii/S2590112523000233; https://doaj.org/toc/2590-1125
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Title:: Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study
Authors:: Giacomo P. Comi
Erik H. Niks
Krista Vandenborne
Claudia M. Cinnante
Hermien E. Kan
Rebecca J. Willcocks
Daniele Velardo
Francesca Magri
Michela Ripolone
Jules J. van Benthem
Nienke M. van de Velde
Simone Nava
Laura Ambrosoli
Sara Cazzaniga
Paolo U. Bettica; Show more
Subject Terms:: Becker muscular dystrophy
therapy
disease progression
fibrosis
magnetic resonance imaging (MRI)
Neurology. Diseases of the nervous system
RC346-429
Source:: Frontiers in Neurology, Vol 14 (2023)
File Description:: electronic resource
Relation:: https://www.frontiersin.org/articles/10.3389/fneur.2023.1095121/full; https://doaj.org/toc/1664-2295
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Title:: NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
Authors:: Federica Invernizzi
Rossella Izzo
Isabel Colangelo
Andrea Legati
Nadia Zanetti
Barbara Garavaglia
Eleonora Lamantea
Lorenzo Peverelli
Anna Ardissone
Isabella Moroni
Lorenzo Maggi
Silvia Bonanno
Laura Fiori
Daniele Velardo
Francesca Magri
Giacomo P. Comi
Dario Ronchi
Daniele Ghezzi
Costanza Lamperti; Show more
Subject Terms:: hyperCKemia
creatine kinase
rhabdomyolysis
skeletal muscle damage
Next Generation Sequencing (NGS)
myoglobinuria
Genetics
QH426-470
Source:: Genes, Vol 14, Iss 7, p 1393 (2023)
File Description:: electronic resource
Relation:: https://www.mdpi.com/2073-4425/14/7/1393; https://doaj.org/toc/2073-4425
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Title:: A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
Authors:: Monica Fumagalli
Dario Ronchi
Maria Francesca Bedeschi
Arianna Manini
Gloria Cristofori
Fabio Mosca
Robertino Dilena
Monica Sciacco
Simona Zanotti
Daniela Piga
Gianluigi Ardissino
Fabio Triulzi
Stefania Corti
Giacomo P. Comi
Leonardo Salviati; Show more
Subject Terms:: Mitochondrial DNA depletion
RRM2B
Ribonucleotide reductase
Mitochondrial encephalomyopathy
Next generation sequencing
Medicine (General)
R5-920
Biology (General)
QH301-705.5
Source:: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100887- (2022)
File Description:: electronic resource
Relation:: http://www.sciencedirect.com/science/article/pii/S2214426922000477; https://doaj.org/toc/2214-4269
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Title:: Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
Authors:: Megi Meneri
Elena Abati
Delia Gagliardi
Irene Faravelli
Valeria Parente
Antonia Ratti
Federico Verde
Nicola Ticozzi
Giacomo P. Comi
Linda Ottoboni
Stefania Corti; Show more
Subject Terms:: antisense oligonucleotide
cerebrospinal fluid
proteome
metabolome
nusinersen
spinal muscular atrophy
Biology (General)
QH301-705.5
Source:: Biomedicines, Vol 11, Iss 5, p 1254 (2023)
File Description:: electronic resource
Relation:: https://www.mdpi.com/2227-9059/11/5/1254; https://doaj.org/toc/2227-9059
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Title:: Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study
Authors:: Giulia Lazzeri
Giulia Franco
Teresa Difonzo
Angelica Carandina
Chiara Gramegna
Maurizio Vergari
Federica Arienti
Anisa Naci
Costanza Scatà
Edoardo Monfrini
Gabriel Dias Rodrigues
Nicola Montano
Giacomo P. Comi
Maria Cristina Saetti
Eleonora Tobaldini
Alessio Di Fonzo; Show more
Subject Terms:: multiple system atrophy
cognitive dysfunction
neuropsychological assessment
dysautonomia
heart rate variability
Neurology. Diseases of the nervous system
RC346-429
Source:: Frontiers in Neurology, Vol 13 (2022)
File Description:: electronic resource
Relation:: https://www.frontiersin.org/articles/10.3389/fneur.2022.912820/full; https://doaj.org/toc/1664-2295
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Title:: Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review
Authors:: Marco Olivero
Delia Gagliardi
Gianluca Costamagna
Daniele Velardo
Francesca Magri
Fabio Triulzi
Giorgio Conte
Giacomo P. Comi
Stefania Corti
Megi Meneri; Show more
Subject Terms:: hepatic encephalopathy
non-convulsive status epilepticus
brain magnetic resonance imaging
case report
corticospinal tract
globus pallidus
Neurology. Diseases of the nervous system
RC346-429
Source:: Frontiers in Neurology, Vol 13 (2022)
File Description:: electronic resource
Relation:: https://www.frontiersin.org/articles/10.3389/fneur.2022.880068/full; https://doaj.org/toc/1664-2295
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Title:: Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Authors:: Dario Ronchi
Edoardo Monfrini
Sara Bonato
Veronica Mancinelli
Claudia Cinnante
Sabrina Salani
Andreina Bordoni
Patrizia Ciscato
Francesco Fortunato
Marianna Villa
Alessio Di Fonzo
Stefania Corti
Nereo Bresolin
Giacomo P. Comi; Show more
Subject Terms:: Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Source:: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 839-845 (2020)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2328-9503
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Title:: Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Authors:: Luca Bello
Grazia D’Angelo
Matteo Villa
Aurora Fusto
Sara Vianello
Beatrice Merlo
Daniele Sabbatini
Andrea Barp
Sandra Gandossini
Francesca Magri
Giacomo P. Comi
Marina Pedemonte
Paola Tacchetti
Valentina Lanzillotta
Federica Trucco
Adele D’Amico
Enrico Bertini
Guja Astrea
Luisa Politano
Riccardo Masson
Giovanni Baranello
Emilio Albamonte
Elisa De Mattia
Fabrizio Rao
Valeria A. Sansone
Stefano Previtali
Sonia Messina
Gian Luca Vita
Angela Berardinelli
Tiziana Mongini
Antonella Pini
Marika Pane
Eugenio Mercuri
Andrea Vianello
Claudio Bruno
Eric P. Hoffman
Lauren Morgenroth
Heather Gordish‐Dressman
Craig M. McDonald
CINRG‐DNHS Investigators
Elena Pegoraro; Show more
Subject Terms:: Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Source:: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2328-9503
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Title:: New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives
Authors:: Megi Meneri
Sara Bonato
Delia Gagliardi
Giacomo P. Comi
Stefania Corti; Show more
Subject Terms:: cerebral vessel
atherosclerosis
cerebrovascular disease
transcriptomics
stroke
single-cell sequencing
Biology (General)
QH301-705.5
Source:: Biomedicines, Vol 10, Iss 1693, p 1693 (2022)
File Description:: electronic resource
Relation:: https://www.mdpi.com/2227-9059/10/7/1693; https://doaj.org/toc/2227-9059
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Title:: Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
Authors:: Eleonora Mauri
Daniela Piga
Alessandra Govoni
Roberta Brusa
Serena Pagliarani
Michela Ripolone
Robertino Dilena
Claudia Cinnante
Monica Sciacco
Denise Cassandrini
Vincenzo Nigro
Nereo Bresolin
Stefania Corti
Giacomo P. Comi
Francesca Magri; Show more
Subject Terms:: congenital myopathy
RyR1
fetal brain MRI
neonatal
muscle MRI
muscle biopsy
Neurology. Diseases of the nervous system
RC346-429
Source:: Frontiers in Neurology, Vol 12 (2021)
File Description:: electronic resource
Relation:: https://www.frontiersin.org/articles/10.3389/fneur.2021.664618/full; https://doaj.org/toc/1664-2295
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Title:: Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye
Authors:: Eleonora Mauri
Robertino Dilena
Antonio Boccazzi
Dario Ronchi
Daniela Piga
Fabio Triulzi
Delia Gagliardi
Roberta Brusa
Irene Faravelli
Nereo Bresolin
Francesca Magri
Stefania Corti
Giacomo P. Comi; Show more
Subject Terms:: Leber’s hereditary optic neuropathy
Spinal cord
Pediatric
Mitochondrial pathology
Neurology. Diseases of the nervous system
RC346-429
Source:: BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
File Description:: electronic resource
Relation:: http://link.springer.com/article/10.1186/s12883-018-1227-9; https://doaj.org/toc/1471-2377
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Title:: Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy
Authors:: Giacomo Monzio Compagnoni
Giulio Kleiner
Maura Samarani
Massimo Aureli
Gaia Faustini
Arianna Bellucci
Dario Ronchi
Andreina Bordoni
Manuela Garbellini
Sabrina Salani
Francesco Fortunato
Emanuele Frattini
Elena Abati
Christian Bergamini
Romana Fato
Silvia Tabano
Monica Miozzo
Giulia Serratto
Maria Passafaro
Michela Deleidi
Rosamaria Silipigni
Monica Nizzardo
Nereo Bresolin
Giacomo P. Comi
Stefania Corti
Catarina M. Quinzii
Alessio Di Fonzo; Show more
Subject Terms:: Medicine (General)
R5-920
Biology (General)
QH301-705.5
Source:: Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
File Description:: electronic resource
Relation:: http://www.sciencedirect.com/science/article/pii/S2213671118303928; https://doaj.org/toc/2213-6711
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Title:: MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form
Authors:: Roberta Telese
Serena Pagliarani
Alberto Lerario
Patrizia Ciscato
Gigliola Fagiolari
Denise Cassandrini
Nadia Grimoldi
Giorgio Conte
Claudia Cinnante
Filippo M. Santorelli
Giacomo P. Comi
Monica Sciacco
Lorenzo Peverelli; Show more
Subject Terms:: MYH2
myosin heavy chain myopathy
ophthalmoplegia
rimmed vacuoles
Genetics
QH426-470
Source:: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2324-9269
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Title:: Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?
Authors:: Elena Abati
Gaia Citterio
Nereo Bresolin
Giacomo P. Comi
Stefania Corti; Show more
Subject Terms:: Spinal muscular atrophy
SMA
Glia
Neuroinflammation
Astrocytes
Microglia
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Source:: Neurobiology of Disease, Vol 140, Iss , Pp 104870- (2020)
File Description:: electronic resource
Relation:: http://www.sciencedirect.com/science/article/pii/S0969996120301455; https://doaj.org/toc/1095-953X
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Title:: Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
Authors:: Serena Pagliarani
Sabrina Lucchiari
Marina Scarlato
Elisa Redaelli
Anna Modoni
Francesca Magri
Barbara Fossati
Stefano C. Previtali
Valeria A. Sansone
Marzia Lecchi
Mauro Lo Monaco
Giovanni Meola
Giacomo P. Comi; Show more
Subject Terms:: myotonia
sodium channel myotonia
founder effect
channelopathy
Nav 1.4
mexiletine
Neurology. Diseases of the nervous system
RC346-429
Source:: Frontiers in Neurology, Vol 11 (2020)
File Description:: electronic resource
Relation:: https://www.frontiersin.org/article/10.3389/fneur.2020.00255/full; https://doaj.org/toc/1664-2295
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Title:: Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies
Authors:: Daniela Piga
Sabrina Salani
Francesca Magri
Roberta Brusa
Eleonora Mauri
Giacomo P. Comi
Nereo Bresolin
Stefania Corti; Show more
Subject Terms:: Neurology. Diseases of the nervous system
RC346-429
Source:: Therapeutic Advances in Neurological Disorders, Vol 12 (2019)
File Description:: electronic resource
Relation:: https://doaj.org/toc/1756-2864
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