Literature DB >> 31061833

GLUT1 Deficiency in a Patient Diagnosed as Cerebral Palsy: Is NGS a Valuable Tool to Be Considered in All Cases of CP to Detect Underlying Genetic Disorders?

Aurélie Méneret1,2, Emmanuel Roze1,2.   

Abstract

Entities:  

Year:  2019        PMID: 31061833      PMCID: PMC6476600          DOI: 10.1002/mdc3.12754

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


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  21 in total

1.  Clinical and MRI correlates of cerebral palsy: the European Cerebral Palsy Study.

Authors:  Martin Bax; Clare Tydeman; Olof Flodmark
Journal:  JAMA       Date:  2006-10-04       Impact factor: 56.272

2.  Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Authors:  Marialuisa Quadri; Antonio Federico; Tianna Zhao; Guido J Breedveld; Carla Battisti; Cathérine Delnooz; Lies-Anne Severijnen; Lara Di Toro Mammarella; Andrea Mignarri; Lucia Monti; Antioco Sanna; Peng Lu; Francesca Punzo; Giovanni Cossu; Rob Willemsen; Fabrizio Rasi; Ben A Oostra; Bart P van de Warrenburg; Vincenzo Bonifati
Journal:  Am J Hum Genet       Date:  2012-02-16       Impact factor: 11.025

3.  A report: the definition and classification of cerebral palsy April 2006.

Authors:  Peter Rosenbaum; Nigel Paneth; Alan Leviton; Murray Goldstein; Martin Bax; Diane Damiano; Bernard Dan; Bo Jacobsson
Journal:  Dev Med Child Neurol Suppl       Date:  2007-02

4.  Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Authors:  Jennifer Friedman; Emmanuel Roze; Jose E Abdenur; Richard Chang; Serena Gasperini; Veronica Saletti; Gurusidheshwar M Wali; Hernan Eiroa; Brian Neville; Alex Felice; Ray Parascandalo; Dimitrios I Zafeiriou; Luisa Arrabal-Fernandez; Patricia Dill; Florian S Eichler; Bernard Echenne; Luis G Gutierrez-Solana; Georg F Hoffmann; Keith Hyland; Katarzyna Kusmierska; Marina A J Tijssen; Thomas Lutz; Michel Mazzuca; Johann Penzien; Bwee Tien Poll-The; Jolanta Sykut-Cegielska; Krystyna Szymanska; Beat Thöny; Nenad Blau
Journal:  Ann Neurol       Date:  2012-04       Impact factor: 10.422

5.  Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Authors:  Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
Journal:  Brain       Date:  2009-06-02       Impact factor: 13.501

Review 6.  An update on the prevalence of cerebral palsy: a systematic review and meta-analysis.

Authors:  Maryam Oskoui; Franzina Coutinho; Jonathan Dykeman; Nathalie Jetté; Tamara Pringsheim
Journal:  Dev Med Child Neurol       Date:  2013-01-24       Impact factor: 5.449

Review 7.  GLUT1 deficiency syndrome: an update.

Authors:  D Gras; E Roze; S Caillet; A Méneret; D Doummar; T Billette de Villemeur; M Vidailhet; F Mochel
Journal:  Rev Neurol (Paris)       Date:  2013-11-20       Impact factor: 2.607

8.  Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Authors:  Brahim Tabarki; Shatha Al-Shafi; Saad Al-Shahwan; Zeeshan Azmat; Amel Al-Hashem; Nawal Al-Adwani; Nabil Biary; Mohamed Al-Zawahmah; Sonia Khan; Giulio Zuccoli
Journal:  Neurology       Date:  2012-12-26       Impact factor: 9.910

9.  Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

Authors:  I Trender-Gerhard; M G Sweeney; P Schwingenschuh; P Mir; M J Edwards; A Gerhard; J M Polke; M G Hanna; M B Davis; N W Wood; K P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-03-29       Impact factor: 10.154

Review 10.  Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Authors:  Eugen Mengel; Hans-Hermann Klünemann; Charles M Lourenço; Christian J Hendriksz; Frédéric Sedel; Mark Walterfang; Stefan A Kolb
Journal:  Orphanet J Rare Dis       Date:  2013-10-17       Impact factor: 4.123

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