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A. Zambon · SciRah

Researcher profile · Semantic Scholar

A. Zambon

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A. Zambon — researcher profile on SciRah

h-index: 15
Works: 59
Citations: 880

Most-cited papers

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
F. Fumagalli, V. Calbi, M. G. Natali Sora, M. Sessa +44 more
2022The Lancet216 citations Open access
Semantic Scholar
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
A. Sarkozy, A. Foley, A. Zambon, C. Bonnemann +1 more
2020Frontiers in Molecular Neuroscience80 citations Open access
Semantic Scholar
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients
F. Fumagalli, A. Zambon, P. Rancoita, C. Baldoli +19 more
2021Journal of Inherited Metabolic Disease58 citations Open access
Semantic Scholar
Congenital muscular dystrophies: What is new?
A. Zambon, F. Muntoni
2021Neuromuscular Disorders53 citations Open access
Semantic Scholar
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort
A. Zambon, D. Ridout, M. Main, R. Mein +3 more
2020Annals of Clinical and Translational Neurology42 citations Open access
Semantic Scholar
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
A. Zambon, V. Ayyar Gupta, D. Ridout, A. Manzur +64 more
2022Developmental Medicine & Child Neurology41 citations Open access
Semantic Scholar
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Fabiana Longo, S. Benedetti, A. Zambon, M. Sora +6 more
2019Human Molecular Genetics41 citations
Semantic Scholar
A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs)
D. Pareyson, T. Stojkovic, M. Reilly, S. Léonard-Louis +38 more
2019Annals of Neurology34 citations Open access
Semantic Scholar
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
S. Previtali, A. Zambon
2020Frontiers in Molecular Neuroscience29 citations Open access
Semantic Scholar
Defining Minor Symptoms in Acute Ischemic Stroke
D. Strambo, A. Zambon, L. Roveri, G. Giacalone +6 more
2015Cerebrovascular Diseases28 citations
Semantic Scholar
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases
A. Zambon, Veronica Pini, L. Bosco, Y. Falzone +3 more
2022Brain : a journal of neurology26 citations Open access
Semantic Scholar
Rimeporide as a ﬁrst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy
S. Previtali, T. Gidaro, Jordi Diaz-Manera, A. Zambon +12 more
2020Pharmacological Research26 citations Open access
Semantic Scholar
Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy.
F. Fumagalli, V. Calbi, Vera Gallo, A. Zambon +47 more
2025New England Journal of Medicine25 citations
Semantic Scholar
Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
A. Zambon, M. G. Natali Sora, Giovanna Cantarella, Federica Cerri +4 more
2017Neuromuscular Disorders25 citations Open access
Semantic Scholar
Molecular mechanisms and therapeutic strategies for neuromuscular diseases
A. Zambon, Y. Falzone, A. Bolino, S. Previtali
2024Cellular and Molecular Life Sciences18 citations Open access
Semantic Scholar
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, Giuliana Capece +59 more
2024Brain : a journal of neurology15 citations Open access
Semantic Scholar
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy
A. Zambon, F. Trucco, A. Laverty, M. Riley +4 more
2022Neurology13 citations Open access
Semantic Scholar
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th - 21st 2021.
Nora T. Detering, A. Zambon, Niko Hensel, R. Kothary +3 more
2022Neuromuscular Disorders12 citations Open access
Semantic Scholar
Functional connectivity markers of prematurity at birth predict neurodevelopmental outcomes at 6, 12, 24, and 36 months
M. Canini, Cristina Cara, Claudia Oprandi, A. Katušić +14 more
2025International Journal of Behavioral Development11 citations Open access
Semantic Scholar
Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications
A. Zambon, M. Waldrop, R. Alles, R. Weiss +4 more
2021Neurology11 citations Open access
Semantic Scholar
Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): Clinical outcomes from 33 patients
F. Fumagalli, V. Calbi, M. Sessa, A. Zambon +21 more
2020Molecular Genetics and Metabolism10 citations
Semantic Scholar
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy
Federica Trucco, Matthew Davies, A. Zambon, D. Ridout +2 more
2024Thorax9 citations
Semantic Scholar
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
A. Zambon, F. Abel, B. Linnane, D. O'Rourke +5 more
2022Neuromuscular Disorders8 citations
Semantic Scholar
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
L. Adang, S. Groeschel, Chloe Grzyb, R. D'Aiello +44 more
2024Molecular Genetics and Metabolism7 citations Open access
Semantic Scholar
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data
E. Albamonte, Adrea Lizio, G. Coratti, L. Maggi +46 more
2025Neurological Sciences6 citations
Semantic Scholar
Effects of atidarsagene autotemcel gene therapy on peripheral nerves in late-infantile metachromatic leukodystrophy.
A. Zambon, P. Rancoita, Angelo Quattrini, Calogera Butera +14 more
2025Brain : a journal of neurology5 citations Open access
Semantic Scholar
Primary progressive multiple sclerosis presenting with severe predominant cognitive impairment and psychiatric symptoms: A challenging case
A. Zambon, G. Cecchetti, F. Caso, R. Santangelo +5 more
2017Multiple Sclerosis5 citations
Semantic Scholar
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia
A. Zambon, M. Pitt, M. Laurá, J. Polke +2 more
2020Journal of the peripheral nervous system4 citations Open access
Semantic Scholar
P.398 - Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers
Teresa Gidaro, L. Servais, S. Previtali, A. Zambon +16 more
20174 citations
Semantic Scholar
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey
A. Capasso, G. Cicala, M. Ricci, M. Pane +68 more
2024European Journal of Pediatrics3 citations
Semantic Scholar
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders
A. Zambon, D. Ghezzi, C. Baldoli, G. Cutillo +14 more
2023Annals of Clinical and Translational Neurology3 citations Open access
Semantic Scholar
Expanding the Spectrum of NUBPL -Related Leukodystrophy
D. Tonduti, A. Zambon, D. Ghezzi, E. Lamantea +5 more
2022Neuropediatrics3 citations Open access
Semantic Scholar
Lentiviral hematopoietic stem and progenitor cell gene therapy provides durable clinical benefit in early-symptomatic early-juvenile metachromatic leukodystrophy
F. Fumagalli, V. Calbi, M. Sessa, A. Zambon +19 more
2021Molecular Genetics and Metabolism3 citations
Semantic Scholar
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Christian Laurini, L. Bosco, A. Zambon, B. Sorrenti +2 more
2025Brain : a journal of neurology2 citations Open access
Semantic Scholar
Disease Progression in Charcot‐Marie‐Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13
A. Bertini, Mary M. Reilly, C. Pisciotta, S. Previtali +27 more
2025European Journal of Neurology2 citations Open access
Semantic Scholar
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects.
A. Zambon, A. Lemaigre, R. Phadke, S. Grunewald +4 more
2021Neuromuscular Disorders2 citations
Semantic Scholar
Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry
Marika Pane, G. Coratti, C. Cutrì, A. Varone +39 more
2026Annals of Clinical and Translational Neurology1 citations Open access
Semantic Scholar
283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025.
A. Zambon, Andrea Klein, A. Sarkozy, A. Foley
2025Neuromuscular Disorders1 citations Open access
Semantic Scholar
Correction: Molecular mechanisms and therapeutic strategies for neuromuscular diseases
A. Zambon, Y. Falzone, A. Bolino, S. Previtali
2024Cellular and Molecular Life Sciences1 citations Open access
Semantic Scholar
Lentiviral hematopoietic stem cell gene therapy (atidarsagene autotemcel) for late juvenile metachromatic leukodystrophy (MLD)
Vera Gallo, V. Calbi, Fabiola de Mattia, A. Zambon +14 more
2024Molecular Genetics and Metabolism1 citations
Semantic Scholar
Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.
G. Cutillo, R. Bonacchi, G. Cecchetti, A. Bellini +8 more
2023Seizure1 citations Open access
Semantic Scholar
Lentiviral haematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD): Preliminary results from a clinical trial with a cryopreserved formulation of OTL-200
Calbi, F. Fumagalli, S. Acquati, S. Miglietta +30 more
20191 citations
Semantic Scholar
Update on safety and efficacy of lentiviral hematopoietic stem cell gene therapy (HSC-GT) for metachromatic leukodystrophy (MLD)
F. Fumagalli, V. Calbi, A. Zambon, F. Ciotti +15 more
20171 citations
Semantic Scholar
Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy
G. Coratti, C. Bravetti, G. Cicala, C. Cutrì +38 more
2026Frontiers in Neurology0 citations Open access
Semantic Scholar
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene
Sivasankar Malaichamy, K. Polavarapu, Rachel Thompson, Romane Idoux +27 more
2026Journal of Neurology0 citations
Semantic Scholar
Development of Italian centile curves for the North Star Ambulatory Assessment and timed items.
Sophia Paolucci, Nicolò Lentini, G. Coratti, Federica Ricci +45 more
2026Neuromuscular Disorders0 citations Open access
Semantic Scholar
Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognition, language, and speech and slows brain demyelination and atrophy in early-onset metachromatic leukodystrophy
F. Fumagalli, V. Calbi, A. Zambon, Vera Gallo +19 more
2025Molecular Genetics and Metabolism0 citations
Semantic Scholar
Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognitive and motor development in early-onset metachromatic leukodystrophy with up to 12 years follow-up
F. Fumagalli, V. Calbi, Fabiola de Mattia, A. Zambon +21 more
2024Molecular Genetics and Metabolism0 citations
Semantic Scholar
P005: Atidarsagene autotemcel (hematopoietic stem cell–gene therapy) preserves cognitive and motor development in metachromatic leukodystrophy with up to 12 years follow-up*
F. Fumagalli, V. Calbi, Fabiola de Mattia, A. Zambon +22 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
ePosters Virtual
S. Casanova, Melo, M. Branco, J. Tam +62 more
2023European Journal of Neurology0 citations Open access
Semantic Scholar

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