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Select record 21
ArticlesPeer ReviewedFull Text
Spinocerebellar ataxia type 48: last but not least
Author / Creator:De, Michele Giovanna ; Galatolo Daniele ; Barghigiani Melissa ; Dello Iacovo Diletta ; Trovato Rosanna ; Alessandra, Tessa ; Salvatore, Elena ; Filla Alessandro ; De, Michele Giuseppe ; Santorelli, Filippo M
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2020-09, Vol.41 (9), p.2423-2432
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NGS in Hereditary Ataxia: When Rare Becomes Frequent
Author / Creator:Galatolo, Daniele ; De Michele, Giovanna ; Silvestri, Gabriella ; Leuzzi, Vincenzo ; Casali, Carlo ; Musumeci, Olimpia ; Antenora, Antonella ; Astrea, Guja ; Barghigiani, Melissa ; Battini, Roberta ; Battisti, Carla ; Caputi, Caterina ; Cioffi, Ettore ; De Michele, Giuseppe ; Dotti, Maria Teresa ; Fico, Tommasina ; Fiorillo, Chiara ; Galosi, Serena ; Lieto, Maria ; Malandrini, Alessandro ; Melone, Marina A. B. ; Mignarri, Andrea ; Natale, Gemma ; Pegoraro, Elena ; Petrucci, Antonio ; Ricca, Ivana ; Riso, Vittorio ; Rossi, Salvatore ; Rubegni, Anna ; Scarlatti, Arianna ; Tinelli, Francesca ; Trovato, Rosanna ; Tedeschi, Gioacchino ; Tessa, Alessandra ; Filla, Alessandro ; Santorelli, Filippo Maria
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-08, Vol.22 (16), p.8490
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SPG8 mutations in Italian families: clinical data and literature review
Author / Creator:Ginanneschi Federica ; D’Amore Angelica ; Barghigiani Melissa ; Alessandra, Tessa ; Rossi, Alessandro ; Santorelli, Filippo Maria
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2020-03, Vol.41 (3), p.699-703
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Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission
Author / Creator:Tolomeo, Deborah ; Rubegni, Anna ; Nesti, Claudia ; Barghigiani, Melissa ; Battini, Roberta ; D'Amore, Francesca ; Doccini, Stefano ; Donati, Maria Alice ; Galatolo, Daniele ; Giglio, Sabrina ; Guarducci, Silvia ; Pantaleo, Marilena ; Pasquariello, Rosa ; Procopio, Elena ; Pochiero, Francesca ; Tessa, Alessandra ; Santorelli, Filippo M M
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-08, Vol.58 (8), p.543-546
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Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1 : An Italian Cohort Study
Author / Creator:Pagano, Stefano ; Lopergolo, Diego ; De Falco, Alessandro ; Meossi, Camilla ; Satolli, Sara ; Pasquariello, Rosa ; Trovato, Rosanna ; Tessa, Alessandra ; Casalini, Claudia ; Pfanner, Lucia ; Astrea, Guja ; Battini, Roberta ; Santorelli, Filippo M
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-02, Vol.16 (2), p.227
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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
Author / Creator:De, Michele Giovanna ; Galatolo Daniele ; Galosi Serena ; Mignarri Andrea ; Silvestri Gabriella ; Casali, Carlo ; Leuzzi Vincenzo ; Ricca Ivana ; Barghigiani Melissa ; Alessandra, Tessa ; Cioffi Ettore ; Caputi Caterina ; Riso Vittorio ; Dotti, Maria Teresa ; Saccà, Francesco ; De, Michele Giuseppe ; Cocozza Sirio ; Filla Alessandro ; Santorelli, Filippo M
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-03, Vol.269 (3), p.1476-1484
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Select record 27
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Docosahexaenoic acid in ARSACS: observations in two patients
Author / Creator:Ricca, Ivana ; Tessa, Alessandra ; Trovato, Rosanna ; Bacci, Giacomo Maria ; Santorelli, Filippo Maria
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2020-05, Vol.20 (1), p.215-215, Article 215
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Select record 28
ArticlesPeer ReviewedFull Text
Primary Coenzyme Q10 Deficiency-Related Ataxias
Author / Creator:Lopriore, Piervito ; Vista, Marco ; Tessa, Alessandra ; Giuntini, Martina ; Caldarazzo Ienco, Elena ; Mancuso, Michelangelo ; Siciliano, Gabriele ; Santorelli, Filippo Maria ; Orsucci, Daniele
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2024-04, Vol.13 (8), p.2391
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Select record 29
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Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
Author / Creator:Nicita, Francesco ; Stregapede, Fabrizia ; Alessandra Tessa ; Bassi, Maria Teresa ; Jezela-Stanek, Aleksandra ; Primiano, Guido ; Pizzuti, Antonio ; Barghigiani, Melissa ; Nardella, Marta ; Zanni, Ginevra ; Servidei, Serenella ; Astrea, Guja ; Panzeri, Elena ; Maghini, Cristina ; Losito, Luciana ; Ploski, Rafal ; Gasperowicz, Piotr ; Santorelli, Filippo Maria ; Bertini, Enrico ; Travaglini, Lorena
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2019-11, Vol.266 (11), p.2657-2664
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Select record 30
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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
Author / Creator:Di Donato Ilaria ; Gallo, Antonio ; Ricca Ivana ; Fini, Nicola ; Silvestri Gabriella ; Gurrieri Fiorella ; Cirillo, Mario ; Cerase Alfonso ; Natale, Gemma ; Matrone Federica ; Riso Vittorio ; Melone Mariarosa Anna Beatrice ; Alessandra, Tessa ; De, Michele Giovanna ; Federico, Antonio ; Filla Alessandro ; Dotti, Maria Teresa ; Santorelli, Filippo Maria
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2022-02, Vol.43 (2), p.1071-1077
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Select record 31
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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Author / Creator:Stevanin, Giovanni ; Santorelli, Filippo M ; Azzedine, Hamid ; Coutinho, Paula ; Chomilier, Jacques ; Denora, Paola S ; Martin, Elodie ; Ouvrard-Hernandez, Anne-Marie ; Tessa, Alessandra ; Bouslam, Naïma ; Lossos, Alexander ; Charles, Perrine ; Loureiro, José L ; Elleuch, Nizar ; Confavreux, Christian ; Cruz, Vítor T ; Ruberg, Merle ; Leguern, Eric ; Grid, Djamel ; Tazir, Meriem ; Fontaine, Bertrand ; Filla, Alessandro ; Bertini, Enrico ; Durr, Alexandra ; Brice, Alexis
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2007-03, Vol.39 (3), p.366-372
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Select record 32
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Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family
Author / Creator:Leonardi, Luca ; Ziccardi, Lucia ; Marcotulli, Christian ; Rubegni, Anna ; Longobardi, Antonino ; Serrao, Mariano ; Storti, Eugenia ; Pierelli, Francesco ; Tessa, Alessandra ; Parisi, Vincenzo ; Santorelli, Filippo M. ; Carlo, Casali
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2016-04, Vol.263 (4), p.781-783
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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Author / Creator:Della Vecchia Stefania ; Alessandra, Tessa ; Dosi, Claudia ; Baldacci Jacopo ; Pasquariello, Rosa ; Antenora Antonella ; Guja, Astrea ; Bassi, Maria Teresa ; Battini, Roberta ; Casali, Carlo ; Cioffi Ettore ; Conti Greta ; De, Michele Giovanna ; Ferrari, Anna Rita ; Filla Alessandro ; Fiorillo Chiara ; Fusco, Carlo ; Gallone Salvatore ; Germiniasi Chiara ; Guerrini Renzo ; Haggiag Shalom ; Lopergolo Diego ; Martinuzzi, Andrea ; Melani Federico ; Mignarri Andrea ; Panzeri, Elena ; Pini Antonella ; Pinto, Anna Maria ; Pochiero Francesca ; Primiano Guido ; Procopio, Elena ; Renieri Alessandra ; Romaniello Romina ; Sancricca Cristina ; Servidei Serenella ; Spagnoli Carlotta ; Ticci Chiara ; Rubegni, Anna ; Santorelli, Filippo Maria
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-01, Vol.269 (1), p.451-451
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Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review
Author / Creator:Mari, Francesco ; Berti, Beatrice ; Romano, Alessandro ; Baldacci, Jacopo ; Rizzi, Riccardo ; Alessandrì, M Grazia ; Alessandra Tessa ; Procopio, Elena ; Rubegni, Anna ; Charles Marques Lourenḉo ; Simonati, Alessandro ; Guerrini, Renzo ; Santorelli, Filippo Maria
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neurogenetics, 2018-05, Vol.19 (2), p.123-130
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2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma
Author / Creator:Gautam, Mukesh ; Carratore, Renata Del ; Helmold, Benjamin ; Tessa, Alessandra ; Gozutok, Oge ; Chandel, Navdeep ; Idrisoglu, Halil ; Bongioanni, Paolo ; Battini, Roberta ; Ozdinler, P.Hande
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2022-02, Vol.12 (2), p.174
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The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy
Author / Creator:Racis, Loretta ; Tessa, Alessandra ; Di Fabio, Roberto ; Storti, Eugenia ; Agnetti, Virgilio ; Casali, Carlo ; Santorelli, Filippo M. ; Pugliatti, Maura
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-01, Vol.261 (1), p.52-59
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Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience
Author / Creator:Riso, Vittorio ; Rossi, Salvatore ; Nicoletti, Tommaso ; Tessa, Alessandra ; Travaglini, Lorena ; Zanni, Ginevra ; Aiello, Chiara ; Perna, Alessia ; Barghigiani, Melissa ; Pomponi, Maria ; Santorelli, Filippo ; Silvestri, Gabriella
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2021-02, Vol.11 (2), p.246
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A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design
Author / Creator:Saccà, Francesco ; Puorro, Giorgia ; Antenora, Antonella ; Marsili, Angela ; Denaro, Alessandra ; Piro, Raffaele ; Sorrentino, Pierpaolo ; Pane, Chiara ; Tessa, Alessandra ; Brescia Morra, Vincenzo ; Cocozza, Sergio ; De Michele, Giuseppe ; Santorelli, Filippo M. ; Filla, Alessandro
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-03, Vol.6 (3), p.e17627-e17627
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Select record 39
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Expanding the clinical and genetic heterogeneity of SPAX5
Author / Creator:Dosi, Claudia ; Galatolo, Daniele ; Rubegni, Anna ; Doccini, Stefano ; Pasquariello, Rosa ; Nesti, Claudia ; Sicca, Federico ; Barghigiani, Melissa ; Battini, Roberta ; Tessa, Alessandra ; Santorelli, Filippo M.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.595-601
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Select record 40
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Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease
Author / Creator:Leonardi, Luca ; Marcotulli, Christian ; McFarland, Karen N. ; Tessa, Alessandra ; DiFabio, Roberto ; Santorelli, Filippo M. ; Pierelli, Francesco ; Ashizawa, Tetsuo ; Casali, Carlo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-09, Vol.261 (9), p.1691-1694
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Showing 21 to 40 of 84 results

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Spinocerebellar ataxia type 48: last but not least

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NGS in Hereditary Ataxia: When Rare Becomes Frequent

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SPG8 mutations in Italian families: clinical data and literature review

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Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

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Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1 : An Italian Cohort Study

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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

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Docosahexaenoic acid in ARSACS: observations in two patients

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Primary Coenzyme Q10 Deficiency-Related Ataxias

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Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

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Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

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Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

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Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review

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2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma

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The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

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Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

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A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

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Expanding the clinical and genetic heterogeneity of SPAX5

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Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease

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