Literature DB >> 25787807

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis.

A Mignarri1, A Tessa, A Federico, F M Santorelli, Maria Teresa Dotti.   

Abstract

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Mesh：

Year:  2015        PMID： 25787807     DOI： 10.1007/s10072-015-2119-z

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


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  5 in total

Review 1.  Alpha-fetoprotein, a fascinating protein and biomarker in neurology.

Authors:  J H Schieving; M de Vries; J M G van Vugt; C Weemaes; M van Deuren; J Nicolai; R A Wevers; M A Willemsen
Journal:  Eur J Paediatr Neurol       Date:  2013-09-29       Impact factor: 3.140

2.  Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

Authors:  M Anheim; B Monga; M Fleury; P Charles; C Barbot; M Salih; J P Delaunoy; M Fritsch; L Arning; M Synofzik; L Schöls; J Sequeiros; C Goizet; C Marelli; I Le Ber; J Koht; J Gazulla; J De Bleecker; M Mukhtar; N Drouot; L Ali-Pacha; T Benhassine; M Chbicheb; A M'Zahem; A Hamri; B Chabrol; J Pouget; R Murphy; M Watanabe; P Coutinho; M Tazir; A Durr; A Brice; C Tranchant; M Koenig
Journal:  Brain       Date:  2009-08-20       Impact factor: 13.501

Review 3.  Non-progressive congenital ataxias.

Authors:  M Steinlin
Journal:  Brain Dev       Date:  1998-06       Impact factor: 1.961

4.  Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Authors:  Matthis Synofzik; Anne S Soehn; Janina Gburek-Augustat; Julia Schicks; Kathrin N Karle; Rebecca Schüle; Tobias B Haack; Martin Schöning; Saskia Biskup; Sabine Rudnik-Schöneborn; Jan Senderek; Karl-Titus Hoffmann; Patrick MacLeod; Johannes Schwarz; Benjamin Bender; Stefan Krüger; Friedmar Kreuz; Peter Bauer; Ludger Schöls
Journal:  Orphanet J Rare Dis       Date:  2013-03-15       Impact factor: 4.123

5.  SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.

Authors:  Lorenzo Nanetti; Simona Cavalieri; Viviana Pensato; Alessandra Erbetta; Davide Pareyson; Marta Panzeri; Giovanna Zorzi; Carlo Antozzi; Isabella Moroni; Cinzia Gellera; Alfredo Brusco; Caterina Mariotti
Journal:  Orphanet J Rare Dis       Date:  2013-08-14       Impact factor: 4.123
  5 in total
  2 in total

1.  Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings.

Authors:  A Bargagli; F Rosini; D Zanca; V Serchi; A Rufa
Journal:  Neurol Sci       Date:  2021-03-26       Impact factor: 3.307

2.  Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).

Authors:  Ilaria Di Donato; Antonio Federico
Journal:  Neurol Sci       Date:  2017-01       Impact factor: 3.307
  2 in total

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