Literature DB >> 26183056

Hereditary spastic paraplegia type 11 with a very late onset.

Anna Rubegni1, Eugenia Storti, Alessandra Tessa, Antonio Federico, Filippo M Santorelli.   

Abstract

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Year:  2015        PMID： 26183056     DOI： 10.1007/s00415-015-7854-9

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Authors:  Maria Pia Giannoccaro; Rocco Liguori; Alessia Arnoldi; Vincenzo Donadio; Patrizia Avoni; Maria Teresa Bassi
Journal:  J Neurol       Date:  2014-07-25       Impact factor: 4.849

2.  Exome sequencing can improve diagnosis and alter patient management.

Authors:  Stacey B Gabriel; Joseph G Gleeson; Tracy J Dixon-Salazar; Jennifer L Silhavy; Nitin Udpa; Jana Schroth; Stephanie Bielas; Ashleigh E Schaffer; Jesus Olvera; Vineet Bafna; Maha S Zaki; Ghada H Abdel-Salam; Lobna A Mansour; Laila Selim; Sawsan Abdel-Hadi; Naima Marzouki; Tawfeg Ben-Omran; Nouriya A Al-Saana; F Müjgan Sonmez; Figen Celep; Matloob Azam; Kiley J Hill; Adrienne Collazo; Ali G Fenstermaker; Gaia Novarino; Naiara Akizu; Kiran V Garimella; Carrie Sougnez; Carsten Russ
Journal:  Sci Transl Med       Date:  2012-06-13       Impact factor: 17.956

3.  Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

Authors:  Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; José Loureiro; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez-Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; José Vale; Paula Coutinho; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2007-12-13       Impact factor: 13.501

4.  Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Authors:  R Schüle; N Schlipf; M Synofzik; S Klebe; S Klimpe; U Hehr; B Winner; T Lindig; A Dotzer; O Riess; J Winkler; L Schöls; P Bauer
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-12       Impact factor: 10.154

5.  Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Authors:  C Crimella; A Arnoldi; F Crippa; M L Mostacciuolo; F Boaretto; M Sironi; M Grazia D'Angelo; S Manzoni; L Piccinini; A C Turconi; A Toscano; O Musumeci; S Benedetti; R Fazio; N Bresolin; A Daga; A Martinuzzi; M T Bassi
Journal:  J Med Genet       Date:  2009-02-05       Impact factor: 6.318

Review 6.  Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.

Authors:  Christelle Tesson; Jeanette Koht; Giovanni Stevanin
Journal:  Hum Genet       Date:  2015-03-11       Impact factor: 4.132
  6 in total
  3 in total

1.  ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.

Authors:  Chiara Vantaggiato; Elena Panzeri; Marianna Castelli; Andrea Citterio; Alessia Arnoldi; Filippo Maria Santorelli; Rocco Liguori; Marina Scarlato; Olimpia Musumeci; Antonio Toscano; Emilio Clementi; Maria Teresa Bassi
Journal:  Autophagy       Date:  2018-09-13       Impact factor: 16.016

2.  Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series.

Authors:  Chuan Li; Qi Yan; Feng-Ju Duan; Chao Zhao; Zhuo Zhang; Ying Du; Wei Zhang
Journal:  BMC Neurol       Date:  2021-01-11       Impact factor: 2.474

Review 3.  Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.

Authors:  Liena E O Elsayed; Isra Zuhair Eltazi; Ammar E Ahmed; Giovanni Stevanin
Journal:  Front Mol Biosci       Date:  2021-11-26
  3 in total

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