A
Alessandra Tessa
Researcher at Boston Children's Hospital
Publications - 174
Citations - 4226
Alessandra Tessa is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Hereditary spastic paraplegia & Mitochondrial DNA. The author has an hindex of 34, co-authored 163 publications receiving 3679 citations. Previous affiliations of Alessandra Tessa include Sapienza University of Rome & University of Pisa.
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Journal ArticleDOI
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Giovanni Stevanin,Filippo M. Santorelli,Hamid Azzedine,Hamid Azzedine,Paula Coutinho,Jacques Chomilier,Paola S. Denora,Elodie Martin,Elodie Martin,Anne Marie Ouvrard-Hernandez,Alessandra Tessa,Naima Bouslam,Naima Bouslam,Alexander Lossos,Perrine Charles,José Leal Loureiro,N. Elleuch,N. Elleuch,Christian Confavreux,Vítor Tedim Cruz,Merle Ruberg,Merle Ruberg,Eric LeGuern,Eric LeGuern,D. Grid,Meriem Tazir,Bertrand Fontaine,Bertrand Fontaine,Alessandro Filla,Enrico Bertini,Alexandra Durr,Alexandra Durr,Alexis Brice +32 more
TL;DR: Ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland are identified, suggesting a loss-of-function mechanism in ARHSP.
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Congenital muscular dystrophies with defective glycosylation of dystroglycan A population study
Eugenio Mercuri,Salvatore Messina,Cristina Bruno,Marina Mora,Elena Pegoraro,Giacomo P. Comi,Anna D'amico,Chiara Aiello,Roberta Biancheri,Angela Berardinelli,P. Boffi,Denise Cassandrini,A. M. Laverda,Maurizio Moggio,Laura Morandi,Isabella Moroni,Marika Pane,Raffaele Pezzani,Anna Pichiecchio,Antonella Pini,Carlo Minetti,Mongini T,E. Mottarelli,Enzo Ricci,Antonello Ruggieri,Simona Saredi,Carmela Scuderi,Alessandra Tessa,A. Toscano,Gaetano Tortorella,Carlo P. Trevisan,Carla Uggetti,Gessica Vasco,Filippo M. Santorelli,Enrico Bertini +34 more
TL;DR: The more severe phenotypes appeared to be consistently associated with mutations predicted to result in a severe disruption of the respective genes, resulting in a wide spectrum of clinical phenotypes.
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Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
Gabriele Siciliano,Alessandra Tessa,Stefania Petrini,Michelangelo Mancuso,Claudio Bruno,G. S. Grieco,Alessandro Malandrini,L Deflorio,Ben Martini,Antonio Federico,Giuseppe Nappi,F.M. Santorelli,Luigi Murri +12 more
TL;DR: The authors reported on a family with dominantly inherited progressive external ophthalmoplegia and a diagnostic and statistical manual diagnosis of bipolar psychiatric disorder in several members and identified a missense mutation (leucine 98-->proline) in the adenine nucleotide translocator 1 gene.
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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Roberta Biancheri,Antonio Falace,Alessandra Tessa,Marina Pedemonte,Sara Scapolan,Denise Cassandrini,Chiara Aiello,Andrea Rossi,Paolo Broda,Federico Zara,Filippo M. Santorelli,Carlo Minetti,Claudio Bruno +12 more
TL;DR: A POMT2 homozygous missense mutation is identified in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement.
Journal ArticleDOI
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Rosalba Carrozzo,Alessandra Tessa,Martha Elisa Vazquez-Memije,Fiorella Piemonte,C. Patrono,Alessandro Malandrini,Carlo Dionisi-Vici,Laura Vilarinho,Marcello Villanova,Hermann Schägger,Antonio Federico,Enrico Bertini,Filippo M. Santorelli +12 more
TL;DR: The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome, and a maternal uncle had a spinocerebellar disorder.