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

M. Sciacco · SciRah

Researcher profile · Semantic Scholar

M. Sciacco

Share profile

M. Sciacco — researcher profile on SciRah

h-index: 41
Works: 159
Citations: 6,107

Most-cited papers

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease
C. Kornblum, T. J. Nicholls, T. Haack, Susanne Schöler +21 more
2013Nature Genetics221 citations Open access
Semantic Scholar
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini +27 more
2013Neurology181 citations
Semantic Scholar
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
F. Magri, A. Govoni, M. D'Angelo, R. del Bo +17 more
2011Journal of Neurology180 citations
Semantic Scholar
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini +27 more
2014Journal of Neurology147 citations
Semantic Scholar
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.
V. Crugnola, C. Lamperti, V. Lucchini, D. Ronchi +12 more
2010Archives of Neurology145 citations
Semantic Scholar
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
D. Ronchi, A. di Fonzo, Wei-Qiang Lin, A. Bordoni +18 more
2013American Journal of Human Genetics138 citations Open access
Semantic Scholar
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
M. Ripolone, D. Ronchi, R. Violano, Dionis Vallejo +18 more
2015JAMA Neurology131 citations Open access
Semantic Scholar
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
S. Kalko, S. Paco, C. Jou, M. A. Rodríguez +21 more
2014BMC Genomics121 citations Open access
Semantic Scholar
Redefining phenotypes associated with mitochondrial DNA single deletion
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini +30 more
2015Journal of Neurology102 citations
Semantic Scholar
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
D. Ronchi, C. Garone, A. Bordoni, Purificación Gutiérrez-Ríos +13 more
2012Brain : a journal of neurology99 citations Open access
Semantic Scholar
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
F. Magri, V. Nigro, C. Angelini, T. Mongini +29 more
2017Muscle and Nerve96 citations Open access
Semantic Scholar
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease
T. J. Nicholls, G. Zsurka, V. Peeva, Susanne Schöler +9 more
2014Human Molecular Genetics77 citations Open access
Semantic Scholar
Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease
A. Ciammola, J. Sassone, M. Sciacco, N. Mencacci +7 more
2010Movement Disorders71 citations Open access
Semantic Scholar
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
R. Feichtinger, M. Oláhová, Yoshihito Kishita, C. Garone +35 more
2017American Journal of Human Genetics68 citations Open access
Semantic Scholar
Nutritional Challenges in Duchenne Muscular Dystrophy
S. Salera, F. Menni, M. Moggio, S. Guez +2 more
2017Nutrients63 citations Open access
Semantic Scholar
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
F. Magri, R. del Bo, M. D'Angelo, M. Sciacco +13 more
2012Neuromuscular Disorders58 citations Open access
Semantic Scholar
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy
L. Peverelli, S. Testolin, Luisa Villa, A. D'Amico +10 more
2015Neurology51 citations Open access
Semantic Scholar
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.
M. Mancuso, D. Orsucci, C. Angelini, E. Bertini +23 more
2016Neuromuscular Disorders46 citations Open access
Semantic Scholar
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
F. Magri, R. del Bo, M. D'Angelo, A. Govoni +13 more
2011BMC Medical Genetics41 citations Open access
Semantic Scholar
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
D. Orsucci, C. Angelini, E. Bertini, Valerio Carelli +29 more
2017Journal of Neurology35 citations
Semantic Scholar
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome
A. Cheldi, D. Ronchi, A. Bordoni, B. Bordo +10 more
2013BMC Neurology34 citations Open access
Semantic Scholar
Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
M. Ripolone, R. Violano, D. Ronchi, S. Mondello +20 more
2018Neuropathology and Applied Neurobiology33 citations Open access
Semantic Scholar
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
E. Mauri, Elena Abati, O. Musumeci, C. Rodolico +71 more
2020Acta myologica32 citations
Semantic Scholar
Mitochondrial disease heterogeneity: a prognostic challenge
M. Moggio, I. Colombo, L. Peverelli, Luisa Villa +4 more
2014Acta myologica32 citations
Semantic Scholar
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
M. Ripolone, D. Velardo, S. Mondello, S. Zanotti +10 more
2022Acta Neuropathologica Communications28 citations Open access
Semantic Scholar
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report
D. Ronchi, A. Cosi, D. Tonduti, S. Orcesi +11 more
2011BMC Neurology24 citations Open access
Semantic Scholar
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
Delia Gagliardi, E. Mauri, F. Magri, D. Velardo +13 more
2019Frontiers in Neurology23 citations Open access
Semantic Scholar
Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
I. Colombo, S. Pagliarani, S. Testolin, C. Cinnante +10 more
2015Journal of Neurology Neurosurgery & Psychiatry23 citations
Semantic Scholar
Long Survival in Patients with Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature
R. J. Levy, Purificación Gutierrez Ríos, H. Akman, M. Sciacco +2 more
2013Journal of Child Neurology21 citations Open access
Semantic Scholar
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1
M. Ripolone, V. Lucchini, D. Ronchi, G. Fagiolari +10 more
2018Journal of Neuroscience Research19 citations Open access
Semantic Scholar
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
D. Ronchi, A. Bordoni, A. Cosi, M. Rizzuti +12 more
2011Biochemical and Biophysical Research Communications - BBRC19 citations
Semantic Scholar
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
I. Colombo, S. Pagliarani, S. Testolin, E. Salsano +12 more
2015Neuromuscular Disorders18 citations
Semantic Scholar
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation
G. Riboldi, R. del Bo, M. Ranieri, F. Magri +5 more
2011Case Reports in Neurology17 citations Open access
Semantic Scholar
Immune-mediated necrotizing myopathy due to statins exposure
Luisa Villa, Alberto Lerario, S. Calloni, L. Peverelli +8 more
2018Acta myologica16 citations
Semantic Scholar
Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt–Jakob disease
D. Santoro, I. Colombo, Isabella Ghione, L. Peverelli +3 more
2011Neurological Sciences16 citations
Semantic Scholar
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
C. Ticci, D. Orsucci, A. Ardissone, L. Bello +37 more
2021Journal of Clinical Medicine15 citations Open access
Semantic Scholar
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
S. Zanotti, F. Magri, S. Salani, L. Napoli +12 more
2023International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
F. Fortunato, Francesca Bianchi, G. Ricci, F. Torri +47 more
2023Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
Valentina Galimberti, Roberto Tironi, Alberto Lerario, M. Scali +11 more
2019European Journal of Neurology14 citations
Semantic Scholar
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
F. Magri, Sara Antognozzi, M. Ripolone, S. Zanotti +13 more
2022Skeletal Muscle13 citations Open access
Semantic Scholar
Genetic defects are common in myopathies with tubular aggregates
Q. Gang, C. Bettencourt, S. Brady, J. Holton +16 more
2021Annals of Clinical and Translational Neurology13 citations Open access
Semantic Scholar
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form
R. Telese, S. Pagliarani, Alberto Lerario, P. Ciscato +9 more
2020Molecular Genetics & Genomic Medicine13 citations Open access
Semantic Scholar
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
F. Magri, Roberta Brusa, L. Bello, L. Peverelli +13 more
2020Acta myologica13 citations
Semantic Scholar
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
D. Ronchi, M. Garbellini, F. Magri, F. Menni +22 more
2023European Journal of Human Genetics11 citations Open access
Semantic Scholar
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
M. Fumagalli, D. Ronchi, M. Bedeschi, Arianna Manini +11 more
2022Molecular Genetics and Metabolism Reports9 citations Open access
Semantic Scholar
Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy
Delia Gagliardi, G. Costamagna, Elena Abati, E. Mauri +12 more
2021Muscle and Nerve9 citations Open access
Semantic Scholar
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
D. Ronchi, L. Caporali, Giulia Manenti, M. Meneri +9 more
2020Frontiers in Genetics9 citations Open access
Semantic Scholar
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
A. M. Ferrara, M. Sciacco, S. Zovato, S. Rizzati +4 more
2016Cancer research and treatment : official journal of Korean Cancer Association9 citations Open access
Semantic Scholar
Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review
V. Mantero, Nicola Rifino, Gisella Costantino, A. Farina +6 more
2020Eating and Weight Disorders8 citations
Semantic Scholar
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease
Agustín Hidalgo-Gutiérrez, Jonathan Shintaku, Javier Ramón, Eliana Barriocanal-Casado +24 more
2024Annals of Neurology7 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

M. Moggio×35
Invite
M. Moggio — researcher profile on SciRah
G. Comi×30
Invite
G. Comi — researcher profile on SciRah
D. Ronchi×22
Invite
D. Ronchi — researcher profile on SciRah
S. Corti×20
Invite
S. Corti — researcher profile on SciRah

×18

Invite

F. Magri — researcher profile on SciRah

Invite

A. Bordoni — researcher profile on SciRah

F. Fortunato×14

Invite

F. Fortunato — researcher profile on SciRah

N. Bresolin×14

Invite

N. Bresolin — researcher profile on SciRah

M. Ripolone×11

Invite

M. Ripolone — researcher profile on SciRah

Invite

A. Toscano — researcher profile on SciRah

Invite

M. Filosto — researcher profile on SciRah

L. Peverelli×10

Invite

L. Peverelli — researcher profile on SciRah