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T. Rizza · SciRah

Researcher profile · Semantic Scholar

T. Rizza

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T. Rizza — researcher profile on SciRah

h-index: 30
Works: 74
Citations: 1,935

Most-cited papers

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
D. Martinelli, L. Travaglini, C. Drouin, I. Ceballos-Picot +10 more
2013Brain : a journal of neurology149 citations Open access
Semantic Scholar
Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB
N. Maio, D. Ghezzi, D. Verrigni, T. Rizza +6 more
2015Cell Metabolism104 citations Open access
Semantic Scholar
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
D. Cassandrini, M. Cilio, M. Bianchi, Mara Doimo +18 more
2013Journal of Inherited Metabolic Disease83 citations
Semantic Scholar
Mutation analysis in 16 patients with mtDNA depletion
R. Carrozzo, B. Bornstein, S. Lucioli, Y. Campos +9 more
2003Human Mutation68 citations Open access
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
'Behr syndrome' with OPA1 compound heterozygote mutations.
V. Carelli, M. Sabatelli, R. Carrozzo, T. Rizza +11 more
2015Brain : a journal of neurology63 citations Open access
Semantic Scholar
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
D. Diodato, G. Tasca, D. Verrigni, A. D'Amico +12 more
2015European Journal of Human Genetics61 citations Open access
Semantic Scholar
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
A. Nasca, T. Rizza, Mara Doimo, A. Legati +18 more
2017Orphanet Journal of Rare Diseases55 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
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1
Mariana Ferreira, A. Torraco, T. Rizza, F. Fattori +12 more
2011Neurogenetics54 citations
Semantic Scholar
DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7
M. Di Nottia, Marcella Masciullo, D. Verrigni, S. Petrillo +13 more
2017Clinical Genetics53 citations
Semantic Scholar
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
C. Castiglioni, D. Verrigni, Cecilia Okuma, Alejandra Díaz +5 more
2015European journal of paediatric neurology53 citations
Semantic Scholar
Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer.
L. Putignani, S. Raffa, R. Pescosolido, T. Rizza +8 more
2012Mitochondrion (Amsterdam. Print)52 citations
Semantic Scholar
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
R. Carrozzo, A. Torraco, G. Fiermonte, D. Martinelli +13 more
2014Mitochondrion (Amsterdam. Print)51 citations
Semantic Scholar
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
C. Nogueira, J. Barros, M. Sá, L. Azevedo +11 more
2013Neurogenetics49 citations
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
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration
V. Muto, E. Flex, Zachary A. Kupchinsky, G. Primiano +27 more
2018Neurology48 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
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
M. Di Nottia, Maria Marchese, D. Verrigni, C. Mutti +15 more
2020Neurobiology of Disease42 citations Open access
Semantic Scholar
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy
A. Sferra, F. Fattori, T. Rizza, E. Flex +13 more
2018Human Molecular Genetics42 citations
Semantic Scholar
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
D. Verrigni, D. Diodato, M. Di Nottia, A. Torraco +9 more
2017Clinical Genetics40 citations
Semantic Scholar
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
S. Papa, V. Petruzzella, S. Scacco, A. Sardanelli +12 more
2009Biochimica et Biophysica Acta40 citations Open access
Semantic Scholar
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches
M. Di Nottia, D. Verrigni, A. Torraco, T. Rizza +2 more
2021Genes38 citations Open access
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
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
A. Torraco, D. Verrigni, T. Rizza, M. Meschini +8 more
2012Neurogenetics37 citations
Semantic Scholar
Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.
S. Petrini, A. Tessa, R. Carrozzo, M. Verardo +3 more
2003Molecular and cellular neurosciences37 citations
Semantic Scholar
Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations
M. Ciccolella, S. Corti, M. Catteruccia, S. Petrini +10 more
2012Journal of Medical Genetics35 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
Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
R. Carrozzo, C. Bellini, S. Lucioli, F. Deodato +12 more
2008American Journal of Medical Genetics. Part A30 citations
Semantic Scholar
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.
T. Rizza, M. E. Vázquez-Memije, M. Meschini, M. Bianchi +6 more
2009Biochemical and Biophysical Research Communications - BBRC28 citations
Semantic Scholar
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion
G. Zanni, S. Barresi, L. Travaglini, L. Bernardini +11 more
2011Neurogenetics27 citations
Semantic Scholar
Maternally‐inherited Leigh syndrome‐related mutations bolster mitochondrial‐mediated apoptosis
R. Carrozzo, T. Rizza, A. Stringaro, R. Pierini +4 more
2004Journal of Neurochemistry27 citations
Semantic Scholar
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
M. Di Nottia, A. Montanari, D. Verrigni, R. Oliva +11 more
2017Biochimica et Biophysica Acta - Molecular Basis of Disease26 citations Open access
Semantic Scholar
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1
S. Travaglione, S. Loizzo, T. Rizza, Antonella Del Brocco +8 more
2014The FEBS Journal25 citations
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
Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene
Martha Elisa Vazquez-Memije, T. Rizza, M. Meschini, C. Nesti +2 more
2009Journal of Cellular Biochemistry20 citations
Semantic Scholar
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
P. Denora, M. Muglia, C. Casali, J. Truchetto +20 more
2009Journal of Neurological Sciences19 citations
Semantic Scholar
Replication studies in longevity: puzzling findings in Danish centenarians at the 3′APOB–VNTR locus
O. Varcasia, S. Garasto, T. Rizza, K. Andersen-Ranberg +8 more
2001Annals of Human Genetics19 citations Open access
Semantic Scholar
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
S. Martinelli, Viviana Cordeddu, S. Galosi, A. Lanzo +29 more
2020Parkinsonism & Related Disorders16 citations Open access
Semantic Scholar
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
V. Petruzzella, R. Carrozzo, C. Calabrese, Rosa Dell’Aglio +9 more
2012Human Molecular Genetics15 citations
Semantic Scholar
Infantile Mitochondrial Disorders
R. Carrozzo, F. Piemonte, A. Tessa, S. Lucioli +4 more
2007Bioscience Reports10 citations
Semantic Scholar
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli
R. Carrozzo, T. Rizza, Simona Lucioli, Roberta Pierini +2 more
2004Acta paediatrica10 citations
Semantic Scholar
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
M. Bianchi, T. Rizza, D. Verrigni, D. Martinelli +11 more
2011Biochemical and Biophysical Research Communications - BBRC9 citations Open access
Semantic Scholar
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
B. Berti, D. Verrigni, A. Nasca, M. Di Nottia +14 more
2024International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Giovanna Carpentieri, C. Leoni, D. Pietraforte, S. Cecchetti +19 more
2021Human Molecular Genetics8 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 Genetics8 citations Open access
Semantic Scholar
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature
A. Torraco, S. Morlino, T. Rizza, M. Di Nottia +7 more
2022Clinical Genetics7 citations Open access
Semantic Scholar
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene
Mohammed El-Hafidi, M. Meschini, T. Rizza, F. Santorelli +3 more
2011Journal of Bioenergetics and Biomembranes6 citations
Semantic Scholar
FGF 17 , a gene involved in cerebellar development , is downregulated in a patient with Dandy – Walker malformation carrying a de novo 8 p deletion
G. Zanni, S. Barresi, L. Travaglini, L. Bernardini +11 more
20116 citations
Semantic Scholar

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E. Bertini×31
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D. Verrigni×20
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D. Ghezzi — researcher profile on SciRah