Literature DB >> 24509643

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Zheng Fan1, Robert Greenwood, Ana C G Felix, Yael Shiloh-Malawsky, Michael Tennison, Myra Roche, Kristy Crooks, Karen Weck, Kirk Wilhelmsen, Jonathan Berg, James Evans.   

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Year:  2014        PMID： 24509643      PMCID： PMC4000021          DOI： 10.1007/s00415-014-7265-3

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


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  11 in total

1.  Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Authors:  J Tassin; A Dürr; A M Bonnet; R Gil; M Vidailhet; C B Lücking; J Y Goas; F Durif; M Abada; B Echenne; J Motte; A Lagueny; L Lacomblez; P Jedynak; B Bartholomé; Y Agid; A Brice
Journal:  Brain       Date:  2000-06       Impact factor: 13.501

2.  Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

Authors:  D Steinberger; R Korinthenberg; H Topka; M Berghäuser; R Wedde; U Müller
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

3.  Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.

Authors:  Lila Mayahi; Lydia Mason; Katherine Bleasdale-Barr; Ann Donald; Iris Trender-Gerhard; Mary G Sweeney; Mary B Davis; Nicholas Wood; Christopher J Mathias; Laura Watson; Denis Pellerin; Simon Heales; John E Deanfield; Kailash Bhatia; Judith Murray-Rust; Aroon D Hingorani
Journal:  Circ Cardiovasc Genet       Date:  2010-10-11

4.  Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

Authors:  D A Grimes; C L Barclay; J Duff; Y Furukawa; A E Lang
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-06       Impact factor: 10.154

5.  Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

Authors:  T G Nygaard; K C Wilhelmsen; N J Risch; D L Brown; J M Trugman; T C Gilliam; S Fahn; D E Weeks
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

6.  Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity.

Authors:  O Bandmann; T G Nygaard; R Surtees; C D Marsden; N W Wood; A E Harding
Journal:  Hum Mol Genet       Date:  1996-03       Impact factor: 6.150

7.  GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia.

Authors:  Y Furukawa; M Shimadzu; A H Rajput; Y Shimizu; T Tagawa; H Mori; M Yokochi; H Narabayashi; O Hornykiewicz; Y Mizuno; S J Kish
Journal:  Ann Neurol       Date:  1996-05       Impact factor: 10.422

8.  Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.

Authors:  Jonathan S Berg; Muin J Khoury; James P Evans
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

9.  Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

Authors:  Conceição Bettencourt; Huw R Morris; Andrew B Singleton; John Hardy; Henry Houlden
Journal:  J Neurol       Date:  2013-07-24       Impact factor: 4.849

10.  An informatics approach to analyzing the incidentalome.

Authors:  Jonathan S Berg; Michael Adams; Nassib Nassar; Chris Bizon; Kristy Lee; Charles P Schmitt; Kirk C Wilhelmsen; James P Evans
Journal:  Genet Med       Date:  2012-09-20       Impact factor: 8.822
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  11 in total

1.  Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

Authors:  Hengameh Zahed; Teresa N Sparks; Ben Li; Adnan Alsadah; Joseph T C Shieh
Journal:  J Pediatr       Date:  2017-10       Impact factor: 4.406

Review 2.  Mouse Systems Genetics as a Prelude to Precision Medicine.

Authors:  Hao Li; Johan Auwerx
Journal:  Trends Genet       Date:  2020-02-06       Impact factor: 11.639

Review 3.  Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Authors:  Hélio A G Teive; Carlos Henrique F Camargo; Eduardo R Pereira; Léo Coutinho; Renato P Munhoz
Journal:  Neurogenetics       Date:  2022-04-09       Impact factor: 3.017

4.  An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:  Laura V Milko; Julianne M O'Daniel; Daniela M DeCristo; Stephanie B Crowley; Ann Katherine M Foreman; Kathleen E Wallace; Lonna F Mollison; Natasha T Strande; Zahra S Girnary; Lacey J Boshe; Arthur S Aylsworth; Muge Gucsavas-Calikoglu; Dianne M Frazier; Neeta L Vora; Myra I Roche; Bradford C Powell; Cynthia M Powell; Jonathan S Berg
Journal:  J Pediatr       Date:  2019-03-07       Impact factor: 4.406

5.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Authors:  Bart P van de Warrenburg; Meyke I Schouten; Susanne T de Bot; Sascha Vermeer; Rowdy Meijer; Maartje Pennings; Christian Gilissen; Michèl Aap Willemsen; Hans Scheffer; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

6.  Clinical whole-exome sequencing results impact medical management.

Authors:  Nancy Niguidula; Christina Alamillo; Layla Shahmirzadi Mowlavi; Zöe Powis; Julie S Cohen; Kelly D Farwell Hagman
Journal:  Mol Genet Genomic Med       Date:  2018-10-14       Impact factor: 2.183

Review 7.  An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Authors:  Kishore R Kumar; Nicholas F Blair; Carolyn M Sue
Journal:  Mov Disord Clin Pract       Date:  2015-06-02

Review 8.  Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Phillip L Pearl
Journal:  Mol Genet Metab       Date:  2021-06-24       Impact factor: 4.797

9.  Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing.

Authors:  Vandana Shashi; Slavé Petrovski; Kelly Schoch; Rebecca Crimian; Laura E Case; Roha Khalid; Maysantoine A El-Dairi; Yong-Hui Jiang; Mohamad A Mikati; David B Goldstein
Journal:  Cold Spring Harb Mol Case Stud       Date:  2015-10

10.  Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Authors:  Gloria T Haskell; Michael C Adams; Zheng Fan; Krunal Amin; Roberto J Guzman Badillo; Linran Zhou; Christopher Bizon; Nizar Chahin; Robert S Greenwood; Laura V Milko; Yael Shiloh-Malawsky; Kristy R Crooks; Natasha Strande; Michael Tennison; Christian R Tilley; Alicia Brandt; Kirk C Wilhelmsen; Karen Weck; James P Evans; Jonathan S Berg
Journal:  Neurol Genet       Date:  2018-02-01
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