Literature DB >> 18413591

Mitochondrial diseases associated with cerebral folate deficiency.

A Garcia-Cazorla1, E V Quadros, A Nascimento, M T Garcia-Silva, P Briones, J Montoya, A Ormazábal, R Artuch, J M Sequeira, N Blau, J Arenas, M Pineda, V T Ramaekers.   

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Year:  2008        PMID： 18413591     DOI： 10.1212/01.wnl.0000309223.98616.e4

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


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  23 in total

1.  Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.

Authors:  James Byrnes; Rebecca Ganetzky; Richard Lightfoot; Michael Tzeng; Eiko Nakamaru-Ogiso; Christoph Seiler; Marni J Falk
Journal:  Neurochem Int       Date:  2017-07-18       Impact factor: 3.921

2.  Omega-3 fatty acid supplementation can prevent changes in mitochondrial energy metabolism and oxidative stress caused by chronic administration of L-tyrosine in the brain of rats.

Authors:  Milena Carvalho-Silva; Lara M Gomes; Maria L Gomes; Bruna K Ferreira; Patricia F Schuck; Gustavo C Ferreira; Felipe Dal-Pizzol; Jade de Oliveira; Giselli Scaini; Emilio L Streck
Journal:  Metab Brain Dis       Date:  2019-04-04       Impact factor: 3.584

3.  CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.

Authors:  John Shoffner; Barbara Trommer; Audrey Thurm; Cristan Farmer; William A Langley; Laura Soskey; Aldeboran N Rodriguez; Precilla D'Souza; Sarah J Spence; Keith Hyland; Susan E Swedo
Journal:  Neurology       Date:  2016-05-13       Impact factor: 9.910

4.  Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Authors:  Marta Batllori; Marta Molero-Luis; Aida Ormazabal; Raquel Montero; Cristina Sierra; Antonia Ribes; Julio Montoya; Eduardo Ruiz-Pesini; Mar O'Callaghan; Leticia Pias; Andrés Nascimento; Francesc Palau; Judith Armstrong; Delia Yubero; Juan D Ortigoza-Escobar; Angels García-Cazorla; Rafael Artuch
Journal:  J Inherit Metab Dis       Date:  2018-07-04       Impact factor: 4.982

5.  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

6.  Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.

Authors:  Emma J Footitt; Simon J Heales; Philippa B Mills; George F G Allen; Marcus Oppenheim; Peter T Clayton
Journal:  J Inherit Metab Dis       Date:  2011-02-09       Impact factor: 4.982

7.  Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse.

Authors:  Carol J Saunders; Sung Ho Moon; Xinping Liu; Isabelle Thiffault; Keith Coffman; Jean-Baptiste LePichon; Eugenio Taboada; Laurie D Smith; Emily G Farrow; Neil Miller; Margaret Gibson; Melanie Patterson; Stephen F Kingsmore; Richard W Gross
Journal:  Hum Mutat       Date:  2015-03       Impact factor: 4.878

Review 8.  Cerebral folate deficiency.

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

9.  Choroid plexus failure in the Kearns-Sayre syndrome.

Authors:  Reynold Spector; Conrad E Johanson
Journal:  Cerebrospinal Fluid Res       Date:  2010-08-23

10.  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
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