Literature DB >> 19907050

AGC1 deficiency and cerebral hypomyelination.

Nicole I Wolf, Marjo S van der Knaap.   

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Year:  2009        PMID： 19907050     DOI： 10.1056/NEJMc091723

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

Review 1.  Case definition and classification of leukodystrophies and leukoencephalopathies.

Authors:  Adeline Vanderver; Morgan Prust; Davide Tonduti; Fanny Mochel; Heather M Hussey; Guy Helman; James Garbern; Florian Eichler; Pierre Labauge; Patrick Aubourg; Diana Rodriguez; Marc C Patterson; Johan L K Van Hove; Johanna Schmidt; Nicole I Wolf; Odile Boespflug-Tanguy; Raphael Schiffmann; Marjo S van der Knaap
Journal:  Mol Genet Metab       Date:  2015-01-29       Impact factor: 4.797

2.  Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Authors:  Brian C Kavanaugh; Emily B Warren; Ozan Baytas; Michael Schmidt; Derek Merck; Karen Buch; Judy S Liu; Chanika Phornphutkul; Paul Caruso; Eric M Morrow
Journal:  Am J Med Genet A       Date:  2019-08-12       Impact factor: 2.802

3.  Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Authors:  Elisabetta Flex; Marcello Niceta; Serena Cecchetti; Isabelle Thiffault; Margaret G Au; Alessandro Capuano; Emanuela Piermarini; Anna A Ivanova; Joshua W Francis; Giovanni Chillemi; Balasubramanian Chandramouli; Giovanna Carpentieri; Charlotte A Haaxma; Andrea Ciolfi; Simone Pizzi; Ganka V Douglas; Kara Levine; Antonella Sferra; Maria Lisa Dentici; Rolph R Pfundt; Jean-Baptiste Le Pichon; Emily Farrow; Frank Baas; Fiorella Piemonte; Bruno Dallapiccola; John M Graham; Carol J Saunders; Enrico Bertini; Richard A Kahn; David A Koolen; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2016-09-22       Impact factor: 11.025

4.  AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Authors:  Marni J Falk; Dong Li; Xiaowu Gai; Elizabeth McCormick; Emily Place; Francesco M Lasorsa; Frederick G Otieno; Cuiping Hou; Cecilia E Kim; Nada Abdel-Magid; Lyam Vazquez; Frank D Mentch; Rosetta Chiavacci; Jinlong Liang; Xuanzhu Liu; Hui Jiang; Giulia Giannuzzi; Eric D Marsh; Guo Yiran; Lifeng Tian; Ferdinando Palmieri; Hakon Hakonarson
Journal:  JIMD Rep       Date:  2014-02-11

Review 5.  Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

Authors:  Marjo S van der Knaap; Marianna Bugiani
Journal:  Acta Neuropathol       Date:  2017-06-21       Impact factor: 17.088

6.  Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Authors:  Bigna K Bölsterli; Eugen Boltshauser; Luigi Palmieri; Johannes Spenger; Michaela Brunner-Krainz; Felix Distelmaier; Peter Freisinger; Tobias Geis; Andrea L Gropman; Johannes Häberle; Julia Hentschel; Bruno Jeandidier; Daniela Karall; Boris Keren; Annick Klabunde-Cherwon; Vassiliki Konstantopoulou; Raimund Kottke; Francesco M Lasorsa; Christine Makowski; Cyril Mignot; Ruth O'Gorman Tuura; Vito Porcelli; René Santer; Kuntal Sen; Katja Steinbrücker; Steffen Syrbe; Matias Wagner; Andreas Ziegler; Thomas Zöggeler; Johannes A Mayr; Holger Prokisch; Saskia B Wortmann
Journal:  Nutrients       Date:  2022-08-31       Impact factor: 6.706

Review 7.  Inborn disorders of the malate aspartate shuttle.

Authors:  Melissa H Broeks; Clara D M van Karnebeek; Ronald J A Wanders; Judith J M Jans; Nanda M Verhoeven-Duif
Journal:  J Inherit Metab Dis       Date:  2021-05-24       Impact factor: 4.982
  7 in total

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