Literature DB >> 17202777

Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.

Saadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu.   

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Year:  2007        PMID： 17202777     DOI： 10.1620/tjem.211.95

Source DB:  PubMed          Journal:  Tohoku J Exp Med        ISSN： 0040-8727            Impact factor:   1.848


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  7 in total

1.  Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

Authors:  Belén Pérez-Dueñas; Claudio Toma; Aida Ormazábal; Jordi Muchart; Francesc Sanmartí; Georgina Bombau; Mercedes Serrano; Angels García-Cazorla; Bru Cormand; Rafael Artuch
Journal:  J Inherit Metab Dis       Date:  2010-09-21       Impact factor: 4.982

Review 2.  Cerebral folate deficiency.

Authors:  Keith Hyland; John Shoffner; Simon J Heales
Journal:  J Inherit Metab Dis       Date:  2010-07-29       Impact factor: 4.982

3.  Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer's Disease with a Change in Metabolic Profile.

Authors:  Jaleel Miyan; Charlotte Buttercase; Emma Beswick; Salma Miyan; Ghazaleh Moshkdanian; Naila Naz
Journal:  Metabolites       Date:  2022-05-24

4.  A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  Cas Simons; Nicole I Wolf; Nathan McNeil; Ljubica Caldovic; Joseph M Devaney; Asako Takanohashi; Joanna Crawford; Kelin Ru; Sean M Grimmond; David Miller; Davide Tonduti; Johanna L Schmidt; Robert S Chudnow; Rudy van Coster; Lieven Lagae; Jill Kisler; Jürgen Sperner; Marjo S van der Knaap; Raphael Schiffmann; Ryan J Taft; Adeline Vanderver
Journal:  Am J Hum Genet       Date:  2013-04-11       Impact factor: 11.025

5.  Functional regulation of P-glycoprotein at the blood-brain barrier in proton-coupled folate transporter (PCFT) mutant mice.

Authors:  Xueqian Wang; Robert M Cabrera; Yue Li; David S Miller; Richard H Finnell
Journal:  FASEB J       Date:  2012-12-04       Impact factor: 5.191

6.  Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.

Authors:  Paolo Moretti; Sarika U Peters; Daniela Del Gaudio; Trilochan Sahoo; Keith Hyland; Teodoro Bottiglieri; Robert J Hopkin; Elizabeth Peach; Sang Hee Min; David Goldman; Benjamin Roa; Carlos A Bacino; Fernando Scaglia
Journal:  J Autism Dev Disord       Date:  2007-11-20

7.  In vitro effects of fetal rat cerebrospinal fluid on viability and neuronal differentiation of PC12 cells.

Authors:  Mohammad Nabiuni; Javad Rasouli; Kazem Parivar; Homa M Kochesfehani; Saeid Irian; Jaleel A Miyan
Journal:  Fluids Barriers CNS       Date:  2012-06-28
  7 in total

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