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Select record 41
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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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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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Select record 46
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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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Select record 48
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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 49
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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 50
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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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Select record 51
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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Author / Creator:D’Amore, Angelica ; Tessa, Alessandra ; Naef, Valentina ; Bassi, Maria Teresa ; Citterio, Andrea ; Romaniello, Romina ; Fichi, Gianluca ; Galatolo, Daniele ; Mero, Serena ; Battini, Roberta ; Bertocci, Giulia ; Baldacci, Jacopo ; Sicca, Federico ; Gemignani, Federica ; Ricca, Ivana ; Rubegni, Anna ; Hirst, Jennifer ; Marchese, Maria ; Sahin, Mustafa ; Ebrahimi‐Fakhari, Darius ; Santorelli, Filippo M.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-04, Vol.7 (4), p.584-589
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Select record 52
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Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism
Author / Creator:Mignarri, Andrea ; Malandrini, Alessandro ; Del Puppo, Marina ; Magni, Alessandro ; Monti, Lucia ; Ginanneschi, Federica ; Tessa, Alessandra ; Santorelli, Filippo Maria ; Federico, Antonio ; Dotti, Maria Teresa
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2014-03, Vol.261 (3), p.617-619
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition
Author / Creator:Filosto, Massimiliano ; Alberici, Antonella ; Tessa, Alessandra ; Padovani, Alessandro ; Santorelli, Filippo M.
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2013-09, Vol.34 (9), p.1699-1701
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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2
Author / Creator:Di Fabio, Roberto ; Santorelli, Filippo ; Bertini, Enrico ; Balestri, Martina ; Cursi, Laura ; Tessa, Alessandra ; Pierelli, Francesco ; Casali, Carlo
Publisher:New York: Springer-Verlag
Journal title:Cerebellum (London, England), 2012-06, Vol.11 (2), p.526-530
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"Bartter-like" phenotype in Kearns-Sayre syndrome
Author / Creator:Emma, Francesco ; Pizzini, Carla ; Tessa, Alessandra ; Di Giandomenico, Silvia ; Onetti-Muda, Andrea ; Santorelli, Filippo M ; Bertini, Enrico ; Rizzoni, Gianfranco
Publisher:Germany: Springer Nature B.V
Journal title:Pediatric nephrology (Berlin, West), 2006-03, Vol.21 (3), p.355-360
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The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
Author / Creator:Scarano, Valentina ; Mancini, Pietro ; Criscuolo, Chiara ; De Michele, Giuseppe ; Rinaldi, Carlo ; Tucci, Tecla ; Tessa, Alessandra ; Santorelli, Filippo M. ; Perretti, Anna ; Santoro, Lucio ; Filla, Alessandro
Publisher:Berlin: Springer
Journal title:Journal of neurology, 2005-08, Vol.252 (8), p.901-903
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Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
Author / Creator:Tessa, Alessandra ; Salvi, Sergio ; Casali, Carlo ; Garavelli, Livia ; Digilio, M. Cristina ; Dotti, M. Teresa ; Giandomenico, Silvia Di ; Valoppi, Manuela ; Grieco, Gaetano S. ; Comanducci, Giovanna ; Bianchini, Giacomo ; Fortini, Daniela ; Federico, Antonio ; Giannotti, Aldo ; Santorelli, Filippo M.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-07, Vol.22 (1), p.104-104
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Select record 58
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Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient
Author / Creator:Lucioli, Simona ; Hoffmeier, Klaus ; Carrozzo, Rosalba ; Tessa, Alessandra ; Ludwig, Bernd ; Santorelli, Filippo M.
Publisher:Berlin: Springer
Journal title:Neurogenetics, 2006-03, Vol.7 (1), p.51-57
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Select record 59
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A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene
Author / Creator:Parisi, Mattia ; Canosa, Antonio ; Tessa, Alessandra ; Ferrero, Bruno ; Gallone, Salvatore
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2023-04, Vol.44 (4), p.1455-1456
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Select record 60
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“Bartter-like” phenotype in Kearns–Sayre syndrome
Author / Creator:Emma, Francesco ; Pizzini, Carla ; Tessa, Alessandra ; Di Giandomenico, Silvia ; Onetti-Muda, Andrea ; Santorelli, Filippo M. ; Bertini, Enrico ; Rizzoni, Gianfranco
Publisher:Springer
Journal title:Pediatric nephrology (Berlin, West), 2006-03, Vol.21 (3), p.355-360
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Showing 41 to 60 of 84 results

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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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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

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Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

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Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

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"Bartter-like" phenotype in Kearns-Sayre syndrome

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The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy

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Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia

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Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

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A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene

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“Bartter-like” phenotype in Kearns–Sayre syndrome

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