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D. Martinelli · SciRah

Researcher profile · Semantic Scholar

D. Martinelli

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D. Martinelli — researcher profile on SciRah

h-index: 44
Works: 150
Citations: 7,186

Most-cited papers

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, A. Burlina, A. Chakrapani, M. Dixon +12 more
2019Journal of Inherited Metabolic Disease456 citations Open access
Semantic Scholar
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
P. Forny, F. Hörster, D. Ballhausen, A. Chakrapani +17 more
2021Journal of Inherited Metabolic Disease260 citations Open access
Semantic Scholar
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S. Kolker, V. Valayannopoulos, A. Burlina, J. Sykut-Cegielska +54 more
2015Journal of Inherited Metabolic Disease217 citations Open access
Semantic Scholar
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
Gloria Brea-Calvo, T. Haack, D. Karall, A. Ohtake +26 more
2015American Journal of Human Genetics110 citations Open access
Semantic Scholar
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy
Amanda H. Kahn-Kirby, Akiko Amagata, Celine I. Maeder, J. J. Mei +25 more
2019PLoS ONE90 citations Open access
Semantic Scholar
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
B. Repp, E. Mastantuono, C. Alston, M. Schiff +53 more
2018Orphanet Journal of Rare Diseases80 citations Open access
Semantic Scholar
TMEM70 deficiency: long-term outcome of 48 patients
M. Magner, V. Dvořáková, M. Tesařová, S. Mazurová +23 more
2015Journal of Inherited Metabolic Disease72 citations
Semantic Scholar
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
C. Dallabona, T. Abbink, R. Carrozzo, A. Torraco +30 more
2016Brain : a journal of neurology65 citations Open access
Semantic Scholar
Genetic disorders of cellular trafficking.
Á. García-Cazorla, A. Oyarzábal, J. Saudubray, D. Martinelli +1 more
2022Trends in Genetics56 citations Open access
Semantic Scholar
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
A. Sferra, G. Baillat, T. Rizza, S. Barresi +22 more
2016American Journal of Human Genetics54 citations Open access
Semantic Scholar
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
H. Hengel, C. Bosso-Lefèvre, G. Grady, E. Szenker-Ravi +81 more
2020Nature Communications52 citations Open access
Semantic Scholar
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
F. Molema, D. Martinelli, F. Hörster, S. Kolker +4 more
2020Journal of Inherited Metabolic Disease51 citations Open access
Semantic Scholar
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Yi Ng, C. Alston, D. Diodato, A. Morris +30 more
2016Journal of Medical Genetics50 citations Open access
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
M. Huemer, D. Diodato, D. Martinelli, G. Olivieri +57 more
2019Journal of Inherited Metabolic Disease49 citations Open access
Semantic Scholar
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy
D. Verrigni, M. Di Nottia, A. Ardissone, E. Baruffini +23 more
2019Human Mutation48 citations Open access
Semantic Scholar
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
A. Torraco, A. Ardissone, F. Invernizzi, T. Rizza +16 more
2016Journal of Neurology47 citations
Semantic Scholar
Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method
Tamás Ditrói, A. Nagy, D. Martinelli, A. Rosta +2 more
2019Free Radical Biology & Medicine44 citations
Semantic Scholar
Cyclic Vomiting Syndrome in Children
U. Raucci, O. Borrelli, G. Di Nardo, R. Tambucci +25 more
2020Frontiers in Neurology42 citations Open access
Semantic Scholar
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Martina Huemer, D. Diodato, D. Martinelli, G. Olivieri +58 more
2018Journal of Inherited Metabolic Disease40 citations Open access
Semantic Scholar
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
M. Caterino, A. Pastore, M. Strozziero, Gianna Di Giovamberardino +8 more
2015Journal of Inherited Metabolic Disease39 citations
Semantic Scholar
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Maya M. Polovitskaya, Carlo Barbini, D. Martinelli, F. L. Harms +16 more
2020American Journal of Human Genetics38 citations Open access
Semantic Scholar
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
F. Molema, F. Gleich, P. Burgard, A. T. Ploeg +64 more
2019Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
A. Ardissone, C. Bruno, D. Diodato, A. Donati +14 more
2021Orphanet Journal of Rare Diseases35 citations Open access
Semantic Scholar
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
E. Piano Mortari, V. Folgiero, V. Marcellini, P. Romania +14 more
2018Autophagy35 citations Open access
Semantic Scholar
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia (MMA)
I. Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass +12 more
2023Journal of Inherited Metabolic Disease33 citations Open access
Semantic Scholar
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set
F. Bösch, M. Landolt, M. Baumgartner, Nina A. Zeltner +11 more
2020Journal of Inherited Metabolic Disease33 citations
Semantic Scholar
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
V. Kožich, B. Schwahn, J. Sokolová, Michaela Křížková +24 more
2022Redox Biology32 citations Open access
Semantic Scholar
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
C. Di Mambro, P. P. Tamborrino, Massimo Stefano Silvetti, M. Yammine +6 more
2020Europace32 citations
Semantic Scholar
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
F. Molema, F. Gleich, P. Burgard, A. T. van der Ploeg +63 more
2019Molecular Genetics and Metabolism32 citations Open access
Semantic Scholar
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia
Evelina Maines, G. Catesini, S. Boenzi, A. Mosca +11 more
2020Journal of Inherited Metabolic Disease31 citations
Semantic Scholar
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia
A. Torraco, Marzia Bianchi, D. Verrigni, Vania Gelmetti +18 more
2017Clinical Genetics31 citations Open access
Semantic Scholar
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins
A. Torraco, O. Stehling, Claudia Stümpfig, Ralf Rösser +13 more
2018Human Molecular Genetics30 citations Open access
Semantic Scholar
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
L. Laugwitz, A. Seibt, D. Herebian, Susana Peralta +33 more
2021Journal of Medical Genetics29 citations Open access
Semantic Scholar
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
C. Ticci, F. Sicca, A. Ardissone, E. Bertini +21 more
2020Neurogenetics28 citations Open access
Semantic Scholar
Chronic liver involvement in urea cycle disorders
G. Ranucci, M. Rigoldi, G. Cotugno, S. Bernabei +9 more
2019Journal of Inherited Metabolic Disease27 citations
Semantic Scholar
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net
A. Rossi, Irene J. Hoogeveen, C. Lubout, F. de Boer +10 more
2021Journal of Inherited Metabolic Disease25 citations Open access
Semantic Scholar
Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
E. Panza, D. Martinelli, P. Magini, Carlo Dionisi Vici +1 more
2019Frontiers in Neurology25 citations Open access
Semantic Scholar
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
D. Amor, Sarah E. M. Stephenson, M. Mustapha, M. Mensah +26 more
2019American Journal of Human Genetics25 citations Open access
Semantic Scholar
Neurologic outcome following liver transplantation for methylmalonic aciduria
D. Martinelli, G. Catesini, Benedetta Greco, Alessia Guarnera +16 more
2023Journal of Inherited Metabolic Disease24 citations
Semantic Scholar
Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management
F. Cammarata-Scalisi, M. Callea, D. Martinelli, C. Willoughby +7 more
2022Genes24 citations Open access
Semantic Scholar
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
D. Battaglia, M. Gambardella, S. Veltri, Ilaria Contaldo +13 more
2021Genes24 citations Open access
Semantic Scholar
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model
M. Haddad, E. Choi, P. Zerfas, Ling Yi +7 more
2018Molecular Therapy: Methods & Clinical Development24 citations Open access
Semantic Scholar
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Nurulamin Abu Bakar, A. Ashikov, J. M. Brum, R. Smeets +19 more
2022Journal of Inherited Metabolic Disease23 citations Open access
Semantic Scholar
U-IMD: the first Unified European registry for inherited metabolic diseases
T. Opladen, F. Gleich, V. Kožich, M. Scarpa +7 more
2020Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
A. Torraco, A. Nasca, D. Verrigni, Alessandra Pennisi +18 more
2021Human Mutation22 citations Open access
Semantic Scholar
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita
M. Callea, D. Martinelli, F. Cammarata-Scalisi, C. Grimaldi +4 more
2022Genes21 citations Open access
Semantic Scholar
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
Francesco Porta, N. Chiesa, D. Martinelli, M. Spada
2019Journal of Pediatric Endocrinology & Metabolism (JPEM)21 citations Open access
Semantic Scholar
Hyperkinetic movement disorders in congenital disorders of glycosylation
G. Mostile, Rita Barone, Alessandra Nicoletti, Renata Rizzo +5 more
2019European Journal of Neurology19 citations
Semantic Scholar
An update on autophagy disorders
H. Dafsari, D. Martinelli, Afshin Saffari, D. Ebrahimi-Fakhari +3 more
2024Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
S. Radenkovic, D. Martinelli, Yuebo Zhang, G. Preston +13 more
2022Genetics in Medicine18 citations
Semantic Scholar

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C. Dionisi-Vici×21
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C. Dionisi-Vici — researcher profile on SciRah
D. Diodato×13
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D. Diodato — researcher profile on SciRah
R. Carrozzo×10
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E. Bertini×9
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T. Rizza — researcher profile on SciRah

S. Scholl-Bürgi×7

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S. Kolker — researcher profile on SciRah

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F. Gleich — researcher profile on SciRah

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D. Verrigni — researcher profile on SciRah

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D. Ghezzi — researcher profile on SciRah

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M. Tartaglia — researcher profile on SciRah

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D. Karall — researcher profile on SciRah