Literature DB >> 25637064

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

Luca Leonardi1, Christian Marcotulli, Filippo M Santorelli, Alessandra Tessa, Carlo Casali.   

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Year:  2015        PMID： 25637064     DOI： 10.1007/s10072-015-2097-1

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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1.  Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Authors:  Alexandra Dürr; Agnès Camuzat; Emilie Colin; Chantal Tallaksen; Didier Hannequin; Paula Coutinho; Bertrand Fontaine; Annick Rossi; Roger Gil; Christophe Rousselle; Merle Ruberg; Giovanni Stevanin; Alexis Brice
Journal:  Arch Neurol       Date:  2004-12

2.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

3.  SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Authors:  M Namekawa; P Ribai; I Nelson; S Forlani; F Fellmann; C Goizet; C Depienne; G Stevanin; M Ruberg; A Dürr; A Brice
Journal:  Neurology       Date:  2006-01-10       Impact factor: 9.910

4.  De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Authors:  Shirley Rainier; Carron Sher; Orit Reish; Donald Thomas; John K Fink
Journal:  Arch Neurol       Date:  2006-03

5.  Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Authors:  Carlo Fusco; Daniele Frattini; Enrico Farnetti; Davide Nicoli; Bruno Casali; Francesco Fiorentino; Andrea Nuccitelli; Elvio Della Giustina
Journal:  Brain Dev       Date:  2009-09-06       Impact factor: 1.961
  5 in total
  4 in total

1.  A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Authors:  Alexandros A Polymeris; Alessandra Tessa; Katherine Anagnostopoulou; Anna Rubegni; Daniele Galatolo; Argirios Dinopoulos; Artemis D Gika; Sotiris Youroukos; Eleni Skouteli; Filippo M Santorelli; Roser Pons
Journal:  J Neurol       Date:  2016-06-03       Impact factor: 4.849

2.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014

3.  Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.

Authors:  Mahesh Kamate; Mayank Detroja
Journal:  Ann Indian Acad Neurol       Date:  2019 Jul-Sep       Impact factor: 1.383

4.  De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.

Authors:  Aristides Hadjinicolaou; Kathie J Ngo; Daniel Y Conway; John P Provias; Steven K Baker; Lauren I Brady; Craig L Bennett; Albert R La Spada; Brent L Fogel; Grace Yoon
Journal:  Acta Neuropathol Commun       Date:  2021-12-18       Impact factor: 7.801
  4 in total

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