Literature DB >> 15249642

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

C E Clarke1, S Alger, M A Preece, M A Burdon, S Chavda, S Denis, S Ferdinandusse, R J A Wanders.   

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Year:  2004        PMID: 15249642     DOI: 10.1212/01.wnl.0000132841.81250.b7

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  12 in total

1.  Non-synonymous variants in the AMACR gene are associated with schizophrenia.

Authors:  Irina N Bespalova; Martina Durner; Benjamin P Ritter; Gary W Angelo; Enrique Rossy-Fullana; Jose Carrion-Baralt; James Schmeidler; Jeremy M Silverman
Journal:  Schizophr Res       Date:  2010-09-26       Impact factor: 4.939

2.  Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Authors:  S Ferdinandusse; P Kostopoulos; S Denis; H Rusch; H Overmars; U Dillmann; W Reith; D Haas; R J A Wanders; M Duran; M Marziniak
Journal:  Am J Hum Genet       Date:  2006-03-29       Impact factor: 11.025

3.  Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency.

Authors:  Sian A Thompson; Jacqui Calvin; Sarah Hogg; Sacha Ferdinandusse; Ronald J A Wanders; Roger A Barker
Journal:  BMJ Case Rep       Date:  2009-02-02

Review 4.  Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.

Authors:  Paul P Van Veldhoven
Journal:  J Lipid Res       Date:  2010-06-17       Impact factor: 5.922

5.  An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Authors:  Emily Helen Smith; Dimitar K Gavrilov; Devin Oglesbee; William D Freeman; Michael W Vavra; Dietrich Matern; Silvia Tortorelli
Journal:  J Inherit Metab Dis       Date:  2010-09-04       Impact factor: 4.982

6.  Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance.

Authors:  Mark Z Kos; Melanie A Carless; Juan Peralta; Joanne E Curran; Ellen E Quillen; Marcio Almeida; August Blackburn; Lucy Blondell; David R Roalf; Michael F Pogue-Geile; Ruben C Gur; Harald H H Göring; Vishwajit L Nimgaonkar; Raquel E Gur; Laura Almasy
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-09-13       Impact factor: 3.568

Review 7.  Peroxisomes in brain development and function.

Authors:  Johannes Berger; Fabian Dorninger; Sonja Forss-Petter; Markus Kunze
Journal:  Biochim Biophys Acta       Date:  2015-12-11

8.  MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Authors:  Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis; Bjørn Ivar Haukanes; Cecilie Bredrup; Gesche Neckelmann; Helge Boman; Per Morten Knappskog; Laurence A Bindoff
Journal:  Orphanet J Rare Dis       Date:  2013-01-03       Impact factor: 4.123

Review 9.  Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; J-M Saudubray; E Roze; Y Agid; M Vidailhet
Journal:  J Inherit Metab Dis       Date:  2008-05-30       Impact factor: 4.750

10.  Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.

Authors:  Abrar K Alsalamah; Arif O Khan
Journal:  Mol Vis       Date:  2021-07-01       Impact factor: 2.367

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