Literature DB >> 17971434

Spastic paraplegia in Romania: high prevalence of SPG4 mutations.

A Orlacchio, C Patrono, A Borreca, C Babalini, G Bernardi, T Kawarai.   

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Year:  2007        PMID： 17971434     DOI： 10.1136/jnnp.2007.128827

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  7 in total

Review 1.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

Review 2.  Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.

Authors:  Maryam Erfanian Omidvar; Shahram Torkamandi; Somaye Rezaei; Behnam Alipoor; Mir Davood Omrani; Hossein Darvish; Hamid Ghaedi
Journal:  J Neurol       Date:  2019-11-19       Impact factor: 4.849

3.  Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

Authors:  D S McCorquodale; U Ozomaro; J Huang; G Montenegro; A Kushman; L Citrigno; J Price; F Speziani; M A Pericak-Vance; S Züchner
Journal:  Clin Genet       Date:  2011-06       Impact factor: 4.438

4.  SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Authors:  Anna Uhrová Mészárosová; Martina Putzová; Marie Čermáková; Dagmar Vávrová; Kateřina Doležalová; Irena Smetanová; David Stejskal; Christian Beetz; Pavel Seeman
Journal:  J Hum Genet       Date:  2016-06-23       Impact factor: 3.172

Review 5.  Hereditary Spastic Paraplegia: An Update.

Authors:  Arun Meyyazhagan; Antonio Orlacchio
Journal:  Int J Mol Sci       Date:  2022-02-01       Impact factor: 5.923

6.  Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Authors:  Salvatore Rossi; Anna Rubegni; Vittorio Riso; Melissa Barghigiani; Maria Teresa Bassi; Roberta Battini; Enrico Bertini; Cristina Cereda; Ettore Cioffi; Chiara Criscuolo; Beatrice Dal Fabbro; Clemente Dato; Maria Grazia D'Angelo; Antonio Di Muzio; Luca Diamanti; Maria Teresa Dotti; Alessandro Filla; Valeria Gioiosa; Rocco Liguori; Andrea Martinuzzi; Roberto Massa; Andrea Mignarri; Rossana Moroni; Olimpia Musumeci; Francesco Nicita; Ilaria Orologio; Laura Orsi; Elena Pegoraro; Antonio Petrucci; Massimo Plumari; Ivana Ricca; Giovanni Rizzo; Silvia Romano; Roberto Rumore; Simone Sampaolo; Marina Scarlato; Marco Seri; Cristina Stefan; Giulia Straccia; Alessandra Tessa; Lorena Travaglini; Rosanna Trovato; Lucia Ulgheri; Giovanni Vazza; Antonio Orlacchio; Gabriella Silvestri; Filippo Maria Santorelli; Mariarosa Anna Beatrice Melone; Carlo Casali
Journal:  Neurol Genet       Date:  2022-03-30

7.  Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia.

Authors:  Aleksandra Klimkowicz-Mrowiec; Anna Dziubek; Malgorzata Sado; Marek Karpiński; Agnieszka Gorzkowska
Journal:  BMC Neurol       Date:  2019-12-14       Impact factor: 2.474
  7 in total

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