Literature DB >> 25126613

Cerebellar Ataxia and CoQ10 Deficiency.

Catarina M Quinzii1, Michio Hirano2, Ali Naini.   

Abstract

Entities:  

Year:  2013        PMID： 25126613      PMCID： PMC4130390     

Source DB:  PubMed          Journal:  J Neurol Disord Stroke


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  14 in total

1.  Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Authors:  Merce Pineda; Raquel Montero; Asuncion Aracil; Mar M O'Callaghan; Ana Mas; Carmen Espinos; Dolores Martinez-Rubio; Francesc Palau; Placido Navas; Paz Briones; Rafael Artuch
Journal:  Mov Disord       Date:  2010-07-15       Impact factor: 10.338

2.  Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

Authors:  Mike Gerards; Bianca van den Bosch; Chantal Calis; Kees Schoonderwoerd; Klaartje van Engelen; Marina Tijssen; René de Coo; Anneke van der Kooi; Hubert Smeets
Journal:  Mitochondrion       Date:  2010-05-23       Impact factor: 4.160

3.  Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Authors:  Barbara Castellotti; Caterina Mariotti; Marco Rimoldi; Roberto Fancellu; Massimo Plumari; Sara Caimi; Graziella Uziel; Nardo Nardocci; Isabella Moroni; Giovanna Zorzi; Davide Pareyson; Daniela Di Bella; Stefano Di Donato; Franco Taroni; Cinzia Gellera
Journal:  Neurogenetics       Date:  2011-04-05       Impact factor: 2.660

Review 4.  Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Authors:  Valentina Emmanuele; Luis C López; Luis López; Andres Berardo; Ali Naini; Saba Tadesse; Bing Wen; Erin D'Agostino; Martha Solomon; Salvatore DiMauro; Catarina Quinzii; Michio Hirano
Journal:  Arch Neurol       Date:  2012-08

5.  Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

Authors:  Stefano D'Arrigo; Daria Riva; Sara Bulgheroni; Luisa Chiapparini; Barbara Castellotti; Cinzia Gellera; Chiara Pantaleoni
Journal:  J Child Neurol       Date:  2008-04-10       Impact factor: 1.987

6.  ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Authors:  Clotilde Lagier-Tourenne; Meriem Tazir; Luis Carlos López; Catarina M Quinzii; Mirna Assoum; Nathalie Drouot; Cleverson Busso; Samira Makri; Lamia Ali-Pacha; Traki Benhassine; Mathieu Anheim; David R Lynch; Christelle Thibault; Frédéric Plewniak; Laurent Bianchetti; Christine Tranchant; Olivier Poch; Salvatore DiMauro; Jean-Louis Mandel; Mario H Barros; Michio Hirano; Michel Koenig
Journal:  Am J Hum Genet       Date:  2008-03       Impact factor: 11.025

7.  CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Authors:  Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
Journal:  Am J Hum Genet       Date:  2008-03       Impact factor: 11.025

8.  Mutations in COQ2 in familial and sporadic multiple-system atrophy.

Authors: 
Journal:  N Engl J Med       Date:  2013-06-12       Impact factor: 91.245

9.  Cerebellar ataxia and coenzyme Q10 deficiency.

Authors:  C Lamperti; A Naini; M Hirano; D C De Vivo; E Bertini; S Servidei; M Valeriani; D Lynch; B Banwell; M Berg; T Dubrovsky; C Chiriboga; C Angelini; E Pegoraro; S DiMauro
Journal:  Neurology       Date:  2003-04-08       Impact factor: 9.910

10.  The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

Authors:  Alessandra Terracciano; Florence Renaldo; Ginevra Zanni; Adele D'Amico; Anna Pastore; Sabina Barresi; Enza Maria Valente; Fiorella Piemonte; Giulia Tozzi; Rosalba Carrozzo; Massimiliano Valeriani; Renata Boldrini; Eugenio Mercuri; Filippo Maria Santorelli; Enrico Bertini
Journal:  Eur J Paediatr Neurol       Date:  2011-08-27       Impact factor: 3.140
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  3 in total

1.  Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.

Authors:  Renu Kumari; Deepak Kumar; Samir K Brahmachari; Achal K Srivastava; Mohammed Faruq; Mitali Mukerji
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

2.  COVID-19 and the Assessment of Coenzyme Q10.

Authors:  Nadia Turton; Robert A Heaton; Iain P Hargreaves
Journal:  Methods Mol Biol       Date:  2022

3.  The Effect of Organophosphate Exposure on Neuronal Cell Coenzyme Q10 Status.

Authors:  Nadia Turton; Robert A Heaton; Fahima Ismail; Sioned Roberts; Sian Nelder; Sue Phillips; Iain P Hargreaves
Journal:  Neurochem Res       Date:  2020-04-18       Impact factor: 3.996
  3 in total

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