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L. Travaglini · SciRah

Researcher profile · Semantic Scholar

L. Travaglini

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L. Travaglini — researcher profile on SciRah

h-index: 30
Works: 105
Citations: 3,707

Most-cited papers

Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.
F. Fazi, Serena Racanicchi, G. Zardo, L. Starnes +8 more
2007Cancer Cell407 citations Open access
Semantic Scholar
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
E. Valente, Clare V. Logan, S. Mougou-Zerelli, J. H. Lee +47 more
2010Nature Genetics286 citations Open access
Semantic Scholar
Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies
Stephanie L. Bielas, J. Silhavy, F. Brancati, Marina V. Kisseleva +21 more
2009Nature Genetics269 citations Open access
Semantic Scholar
Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression.
G. Zardo, Alberto Ciolfi, Laura Vian, L. Starnes +12 more
2012Blood162 citations Open access
Semantic Scholar
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
F. Brancati, Giuseppe Barrano, J. Silhavy, S. E. Marsh +29 more
2007American Journal of Human Genetics158 citations Open access
Semantic Scholar
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
Sequential valproic acid/all-trans retinoic acid treatment reprograms differentiation in refractory and high-risk acute myeloid leukemia.
G. Cimino, F. Lo-Coco, S. Fenu, L. Travaglini +14 more
2006Cancer Research127 citations Open access
Semantic Scholar
MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement
F. Brancati, M. Iannicelli, L. Travaglini, A. Mazzotta +19 more
2009Human Mutation114 citations Open access
Semantic Scholar
Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
M. Iannicelli, F. Brancati, S. Mougou-Zerelli, A. Mazzotta +28 more
2010Human Mutation104 citations Open access
Semantic Scholar
Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia.
F. Fazi, G. Zardo, V. Gelmetti, L. Travaglini +8 more
2007Blood98 citations
Semantic Scholar
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway
S. Petrillo, Laura Pelosi, F. Piemonte, L. Travaglini +7 more
2017Human Molecular Genetics95 citations Open access
Semantic Scholar
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons
Valentina D'Oria, S. Petrini, L. Travaglini, Chiara Priori +5 more
2013International Journal of Molecular Sciences88 citations Open access
Semantic Scholar
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
L. Travaglini, F. Brancati, J. Silhavy, M. Iannicelli +22 more
2013European Journal of Human Genetics80 citations Open access
Semantic Scholar
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
T. Schirinzi, Giacomo Garone, L. Travaglini, G. Vasco +13 more
2019Parkinsonism & Related Disorders79 citations
Semantic Scholar
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
M. Neri, Rachele Rossi, C. Trabanelli, A. Mauro +51 more
2020Frontiers in Genetics75 citations Open access
Semantic Scholar
RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders
F. Brancati, L. Travaglini, D. Zablocka, E. Boltshauser +10 more
2008Clinical Genetics72 citations Open access
Semantic Scholar
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
L. Travaglini, C. Aiello, Fabrizia Stregapede, A. D'Amico +12 more
2018Neurogenetics60 citations
Semantic Scholar
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
Giacomo Garone, A. Capuano, L. Travaglini, Federica Graziola +5 more
2020International Journal of Molecular Sciences59 citations Open access
Semantic Scholar
Epigenetic reprogramming of breast cancer cells by valproic acid occurs regardless of estrogen receptor status.
L. Travaglini, Laura Vian, Monia Billi, F. Grignani +1 more
2009International Journal of Biochemistry and Cell Biology51 citations
Semantic Scholar
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
L. Travaglini, M. Nardella, E. Bellacchio, A. D'Amico +13 more
2017European journal of paediatric neurology49 citations
Semantic Scholar
LMNA-associated myopathies
L. Maggi, A. D'Amico, A. Pini, S. Sivo +26 more
2014Neurology48 citations
Semantic Scholar
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Sietske H. G. Kevelam, J. Taube, R. V. van Spaendonk, E. Bertini +22 more
2015Annals of Clinical and Translational Neurology46 citations Open access
Semantic Scholar
Expanding CEP290 mutational spectrum in ciliopathies
L. Travaglini, F. Brancati, T. Attié-Bitach, S. Audollent +163 more
2009American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Targeting of the N‐terminal coiled coil oligomerization interface by a helix‐2 peptide inhibits unmutated and imatinib‐resistant BCR/ABL
T. Beissert, Alena Hundertmark, Velina Kaburova, L. Travaglini +3 more
2008International Journal of Cancer41 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
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
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
T. Schirinzi, Federica Graziola, F. Nicita, L. Travaglini +6 more
2018Cerebellum32 citations
Semantic Scholar
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.
Federica Graziola, Fabrizia Stregapede, L. Travaglini, Giacomo Garone +7 more
2019Parkinsonism & Related Disorders31 citations
Semantic Scholar
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study
Federica Graziola, Giacomo Garone, Fabrizia Stregapede, L. Bosco +5 more
2019Frontiers in Genetics27 citations Open access
Semantic Scholar
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
T. Schirinzi, Federica Graziola, R. Cusmai, L. Fusco +7 more
2018Brain & development (Tokyo. 1979)27 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
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis
Barbara Carletti, Emanuela Piermarini, G. Tozzi, L. Travaglini +7 more
2014International Journal of Molecular Sciences26 citations Open access
Semantic Scholar
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
I. Dorboz, C. Aiello, C. Simons, R. Stone +12 more
2017Brain : a journal of neurology24 citations Open access
Semantic Scholar
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
L. Pisciotta, G. Tozzi, L. Travaglini, R. Taurisano +13 more
2017Atherosclerosis23 citations
Semantic Scholar
PRRT2 is mutated in familial and non-familial benign infantile seizures.
N. Specchio, A. Terracciano, M. Trivisano, S. Cappelletti +8 more
2013European journal of paediatric neurology23 citations
Semantic Scholar
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions
A. Ferraris, L. Bernardini, Vesna Sabolic Avramovska, G. Zanni +15 more
2013Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.
L. Travaglini, E. Bellacchio, C. Aiello, S. Pro +2 more
2017Journal of Neurological Sciences22 citations
Semantic Scholar
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.
F. Nicita, L. Travaglini, S. Sabatini, B. Garavaglia +6 more
2016Parkinsonism & Related Disorders22 citations
Semantic Scholar
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
L. Blasco-Pérez, M. Costa-Roger, J. Leno-Colorado, S. Bernal +20 more
2022International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
E. Abiusi, P. Infante, C. Cagnoli, Ludovica Lospinoso Severini +24 more
2021eLife19 citations Open access
Semantic Scholar
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
S. Nuovo, A. Micalizzi, R. Romaniello, F. Arrigoni +31 more
2021Journal of Medical Genetics17 citations
Semantic Scholar
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia.
F. Nicita, T. Schirinzi, Fabrizia Stregapede, G. Vasco +2 more
2019European journal of paediatric neurology16 citations
Semantic Scholar
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience
V. Riso, Salvatore Rossi, T. Nicoletti, A. Tessa +8 more
2021Brain Science15 citations Open access
Semantic Scholar
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Fabrizia Stregapede, L. Travaglini, A. Rebelo, V. Cintra +7 more
2019Clinical Genetics15 citations
Semantic Scholar
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy
I. Giovannoni, F. Callea, L. Travaglini, A. Amodeo +6 more
2014European Journal of Pediatrics15 citations
Semantic Scholar
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
R. Romaniello, L. Pasca, E. Panzeri, F. D'Abrusco +10 more
2022International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance
S. Nuovo, V. Baglioni, Roberta De Mori, Silvia Tardivo +18 more
2021Human Mutation14 citations Open access
Semantic Scholar
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
F. Nicita, Fabrizia Stregapede, A. Tessa, M. Bassi +16 more
2019Journal of Neurology14 citations
Semantic Scholar
CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report
Marina Romozzi, G. Primiano, Eleonora Rollo, L. Travaglini +3 more
2021The Journal of Headache and Pain12 citations Open access
Semantic Scholar
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
Giulia Coarelli, S. Romano, L. Travaglini, M. Ferraldeschi +7 more
2018Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)11 citations Open access
Semantic Scholar

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E. Bertini×36
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E. Valente×14
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F. Nicita×11
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