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G. Zorzi · SciRah

Researcher profile · Semantic Scholar

G. Zorzi

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G. Zorzi — researcher profile on SciRah

h-index: 40
Works: 137
Citations: 5,535

Most-cited papers

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
T. Haack, P. Hogarth, M. Kruer, A. Gregory +29 more
2012American Journal of Human Genetics359 citations Open access
Semantic Scholar
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
S. Dusi, L. Valletta, T. Haack, Y. Tsuchiya +23 more
2014American Journal of Human Genetics204 citations Open access
Semantic Scholar
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
S. Hayflick, M. Kruer, A. Gregory, T. Haack +34 more
2013Brain : a journal of neurology201 citations Open access
Semantic Scholar
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
N. Mencacci, I. Rubio‐Agusti, A. Zdebik, F. Asmus +29 more
2015American Journal of Human Genetics138 citations Open access
Semantic Scholar
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations
V. Leoni, Laura Strittmatter, G. Zorzi, F. Zibordi +13 more
2011Molecular Genetics and Metabolism122 citations Open access
Semantic Scholar
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
N. Mencacci, E. Kamsteeg, Kosuke Nakashima, L. R'bibo +27 more
2016American Journal of Human Genetics116 citations Open access
Semantic Scholar
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
T. Klopstock, F. Tricta, L. Neumayr, I. Karin +23 more
2019Lancet Neurology110 citations Open access
Semantic Scholar
Status dystonicus: Predictors of outcome and progression patterns of underlying disease
A. Fasano, L. Ricciardi, A. R. Bentivoglio, C. Canavese +12 more
2012Movement Disorders109 citations
Semantic Scholar
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D. Steel, M. Zech, Chen Zhao, K. Barwick +49 more
2020Annals of Neurology99 citations Open access
Semantic Scholar
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
M. Carecchio, N. Mencacci, Alessandro Iodice, R. Pons +16 more
2017Parkinsonism & Related Disorders89 citations Open access
Semantic Scholar
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
P. Hogarth, M. Kurian, A. Gregory, B. Csányi +10 more
2017Molecular Genetics and Metabolism84 citations
Semantic Scholar
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study
M. Carecchio, F. Invernizzi, P. Gonzalez-Latapi, C. Panteghini +18 more
2019Movement Disorders76 citations
Semantic Scholar
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
E. Mantuano, S. Romano, L. Veneziano, C. Gellera +12 more
2010Journal of Neurological Sciences72 citations
Semantic Scholar
Pallidal stimulation for acquired dystonia due to cerebral palsy: beyond 5 years
L. Romito, G. Zorzi, C. Marras, A. Franzini +2 more
2015European Journal of Neurology65 citations
Semantic Scholar
ATP1A3-related disorders: An update.
M. Carecchio, G. Zorzi, F. Ragona, F. Zibordi +1 more
2017European journal of paediatric neurology60 citations
Semantic Scholar
Sporadic and familial glut1ds Italian patients: A wide clinical variability.
V. Giorgis, F. Teutonico, Cristina Cereda, U. Balottin +8 more
2015Seizure51 citations Open access
Semantic Scholar
Deep brain stimulation for dystonia due to cerebral palsy: A review.
A. Elia, C. Bagella, F. Ferré, G. Zorzi +2 more
2017European journal of paediatric neurology50 citations
Semantic Scholar
Phenomenology of psychogenic movement disorders in children
C. Canavese, C. Ciano, F. Zibordi, G. Zorzi +2 more
2012Movement Disorders48 citations
Semantic Scholar
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
C. Panteghini, G. Zorzi, P. Venco, S. Dusi +10 more
2012Seminars in Pediatric Neurology47 citations
Semantic Scholar
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients
B. Castellotti, C. Mariotti, M. Rimoldi, R. Fancellu +11 more
2011Neurogenetics46 citations
Semantic Scholar
Deep brain stimulation for movement disorders. Considerations on 276 consecutive patients
A. Franzini, R. Cordella, G. Messina, C. Marras +8 more
2011Journal of neural transmission42 citations
Semantic Scholar
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
M. Novelli, S. Galosi, G. Zorzi, S. Martinelli +8 more
2023Parkinsonism & Related Disorders41 citations
Semantic Scholar
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein
L. Nanetti, S. Cavalieri, V. Pensato, A. Erbetta +8 more
2013Orphanet Journal of Rare Diseases41 citations Open access
Semantic Scholar
Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.
M. Aoun, P. Corsetto, G. Nugue, G. Montorfano +8 more
2017Molecular Genetics and Metabolism40 citations
Semantic Scholar
The “Eye-of-the-Tiger” Sign may be Absent in the Early Stages of Classic Pantothenate Kinase Associated Neurodegeneration
L. Chiapparini, M. Savoiardo, S. D'Arrigo, Chiara Reale +6 more
2011Neuropediatrics40 citations
Semantic Scholar
Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.
P. Veggiotti, F. Teutonico, E. Alfei, N. Nardocci +4 more
2010Brain & development (Tokyo. 1979)38 citations
Semantic Scholar
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
S. Galosi, B. Edani, S. Martinelli, H. Hansíková +46 more
2021Brain : a journal of neurology37 citations Open access
Semantic Scholar
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
F. Nicita, M. Ginevrino, L. Travaglini, S. D'Arrigo +21 more
2020Journal of Medical Genetics37 citations
Semantic Scholar
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review
J. Garau, Vanessa Cavallera, Marialuisa Valente, D. Tonduti +35 more
2019Journal of Clinical Medicine36 citations Open access
Semantic Scholar
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement
Annika Danielsson, M. Carecchio, L. Cif, A. Koy +14 more
2019Journal of Clinical Medicine36 citations Open access
Semantic Scholar
EMG-Based Visual-Haptic Biofeedback: A Tool to Improve Motor Control in Children With Primary Dystonia
C. Casellato, A. Pedrocchi, G. Zorzi, Lea Vernisse +2 more
2013IEEE transactions on neural systems and rehabilitation engineering36 citations Open access
Semantic Scholar
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
A. Ciolfi, A. Foroutan, A. Capuano, L. Pedace +23 more
2021Clinical Epigenetics33 citations Open access
Semantic Scholar
Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study
D. Martino, A. Gajos, V. Gallo, L. Cif +9 more
2013Journal of Neurology31 citations
Semantic Scholar
Deep brain stimulation versus pallidotomy for status dystonicus: a single-center case series.
Vincenzo Levi, G. Zorzi, G. Messina, L. Romito +4 more
2019Journal of Neurosurgery30 citations Open access
Semantic Scholar
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration
C. Russo, A. Ardissone, E. Freri, Serena Gasperini +7 more
2018Movement Disorders Clinical Practice30 citations Open access
Semantic Scholar
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach
D. Tonduti, L. Chiapparini, I. Moroni, A. Ardissone +6 more
2016Current Neurology and Neuroscience Reports30 citations
Semantic Scholar
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort
N. Mencacci, L. R'bibo, S. Bandres-Ciga, M. Carecchio +12 more
2015Human Molecular Genetics30 citations Open access
Semantic Scholar
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
T. Klopstock, A. Videnovic, A. Bischoff, C. Bonnet +25 more
2020Movement Disorders27 citations Open access
Semantic Scholar
Targeting the brain: considerations in 332 consecutive patients treated by deep brain stimulation (DBS) for severe neurological diseases
A. Franzini, R. Cordella, G. Messina, C. Marras +10 more
2012Neurological Sciences27 citations
Semantic Scholar
Reaching and Writing Movements: Sensitive and Reliable Tools to Measure Genetic Dystonia in Children
C. Casellato, G. Zorzi, A. Pedrocchi, G. Ferrigno +1 more
2011Journal of Child Neurology26 citations
Semantic Scholar
Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
A. Darling, Cristina Tello, M. Martí, C. Garrido +39 more
2017Movement Disorders25 citations Open access
Semantic Scholar
Therapeutic advances in neurodegeneration with brain iron accumulation.
G. Zorzi, F. Zibordi, L. Chiapparini, N. Nardocci
2012Seminars in Pediatric Neurology23 citations
Semantic Scholar
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation
G. Zorzi, I. J. Keller Sarmiento, F. R. Danti, B. Bustos +8 more
2021Movement Disorders21 citations
Semantic Scholar
A Novel Mutation in STXBP1 Gene in a Child With Epileptic Encephalopathy and an Atypical Electroclinical Pattern
R. Romaniello, C. Zucca, E. Tenderini, F. Arrigoni +4 more
2014Journal of Child Neurology20 citations
Semantic Scholar
Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia
C. Casellato, A. Pedrocchi, G. Zorzi, G. Rizzi +2 more
2012Journal of NeuroEngineering and Rehabilitation20 citations Open access
Semantic Scholar
Variants in ATP5F1B are associated with dominantly inherited dystonia
A. Nasca, N. Mencacci, F. Invernizzi, M. Zech +14 more
2023Brain : a journal of neurology19 citations Open access
Semantic Scholar
A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
S. Esposito, M. Carecchio, D. Tonduti, V. Saletti +9 more
2017Movement Disorders18 citations
Semantic Scholar
Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.
C. Lamperti, F. Invernizzi, R. Solazzi, E. Freri +8 more
2016European journal of paediatric neurology16 citations
Semantic Scholar
Deep brain stimulation in critical care conditions
A. Franzini, R. Cordella, Michele Rizzi, C. Marras +3 more
2014Journal of neural transmission15 citations
Semantic Scholar
Pathophysiology and Treatment of Neurodegeneration With Brain Iron Accumulation in the Pediatric Population
S. Schneider, G. Zorzi, N. Nardocci
2013Current Treatment Options in Neurology15 citations
Semantic Scholar

Frequent co-authors

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N. Nardocci×40
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N. Nardocci — researcher profile on SciRah
B. Garavaglia×21
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B. Garavaglia — researcher profile on SciRah
F. Zibordi×11
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F. Zibordi — researcher profile on SciRah
L. Chiapparini×9
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L. Chiapparini — researcher profile on SciRah

×9

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N. Mencacci — researcher profile on SciRah

M. Carecchio×9

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M. Carecchio — researcher profile on SciRah

C. Panteghini×9

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C. Panteghini — researcher profile on SciRah

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L. Romito — researcher profile on SciRah

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K. Bhatia — researcher profile on SciRah

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M. Kurian — researcher profile on SciRah

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S. Hayflick — researcher profile on SciRah

F. Invernizzi×6

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F. Invernizzi — researcher profile on SciRah