Literature DB >> 20582949

Hypomyelination versus delayed myelination.

Marjo S van der Knaap, Nicole I Wolf.   

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Year:  2010        PMID： 20582949     DOI： 10.1002/ana.21751

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  8 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.  MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

Authors:  Davide Tonduti; Adeline Vanderver; Angela Berardinelli; Johanna L Schmidt; Christin D Collins; Francesca Novara; Antonia Di Genni; Alda Mita; Fabio Triulzi; Janice E Brunstrom-Hernandez; Orsetta Zuffardi; Umberto Balottin; Simona Orcesi
Journal:  J Child Neurol       Date:  2012-07-17       Impact factor: 1.987

Review 3.  Neurometabolic diseases of childhood.

Authors:  Zoltan Patay; Susan I Blaser; Andrea Poretti; Thierry A G M Huisman
Journal:  Pediatr Radiol       Date:  2015-09-07

4.  Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

Authors:  Elisabetta Gazzerro; Simona Baldassari; Caterina Giacomini; Veronica Musante; Floriana Fruscione; Veronica La Padula; Roberta Biancheri; Sonia Scarfì; Valeria Prada; Federica Sotgia; Ian D Duncan; Federico Zara; Hauke B Werner; Michael P Lisanti; Lucilla Nobbio; Anna Corradi; Carlo Minetti
Journal:  PLoS One       Date:  2012-03-26       Impact factor: 3.240

Review 5.  Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Authors:  Pieter Vancamp; Barbara A Demeneix; Sylvie Remaud
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-13       Impact factor: 5.555

6.  Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Authors:  Nancy Vegas; Mara Cavallin; Camille Maillard; Nathalie Boddaert; Joseph Toulouse; Elise Schaefer; Tally Lerman-Sagie; Dorit Lev; Barth Magalie; Sébastien Moutton; Eric Haan; Bertrand Isidor; Delphine Heron; Mathieu Milh; Stéphane Rondeau; Caroline Michot; Stephanie Valence; Sabrina Wagner; Marie Hully; Cyril Mignot; Alice Masurel; Alexandre Datta; Sylvie Odent; Mathilde Nizon; Leila Lazaro; Marie Vincent; Benjamin Cogné; Anne Marie Guerrot; Stéphanie Arpin; Jean Michel Pedespan; Isabelle Caubel; Benedicte Pontier; Baptiste Troude; Francois Rivier; Christophe Philippe; Thierry Bienvenu; Marie-Aude Spitz; Amandine Bery; Nadia Bahi-Buisson
Journal:  Neurol Genet       Date:  2018-11-07

7.  Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

Authors:  Filipa Rodrigues; Joana Grenha; Carlos Ortez; Andrés Nascimento; Beatriz Morte; Monica M-Belinchón; Judith Armstrong; Jaume Colomer
Journal:  BMC Pediatr       Date:  2014-10-04       Impact factor: 2.125

8.  Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.

Authors:  Erina Ono; Masamichi Ariga; Sakiko Oshima; Mika Hayakawa; Masayuki Imai; Yukikatsu Ochiai; Hiroshi Mochizuki; Noriyuki Namba; Keiichi Ozono; Ichiro Miyata
Journal:  Clin Pediatr Endocrinol       Date:  2016-04-28
  8 in total

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