Literature DB >> 20512583

4H syndrome: a rare cause of leukodystrophy.

Olivier Outteryck, David Devos, Patrice Jissendi, Odile Boespflug-Tanguy, Lucie Hopes, Dimitri Renard, Joël Ferri, Patrick Vermersch, Pierre Labauge.   

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Year:  2010        PMID： 20512583     DOI： 10.1007/s00415-010-5598-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

Authors:  N I Wolf; I Harting; E Boltshauser; G Wiegand; M J Koch; T Schmitt-Mechelke; E Martin; J Zschocke; B Uhlenberg; G F Hoffmann; L Weber; F Ebinger; D Rating
Journal:  Neurology       Date:  2005-04-26       Impact factor: 9.910

2.  Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

Authors:  M Timmons; M Tsokos; M Abu Asab; S B Seminara; G C Zirzow; C R Kaneski; J D Heiss; M S van der Knaap; M T Vanier; R Schiffmann; K Wong
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

3.  Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?

Authors:  Salim Atrouni; Antoine Darazé; Jean Tamraz; Antoine Cassia; Catherine Caillaud; André Mégarbané
Journal:  Am J Med Genet A       Date:  2003-04-01       Impact factor: 2.802

4.  Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

Authors:  Masayuki Sasaki; Jun-ichi Takanashi; Hiroko Tada; Hiroshi Sakuma; Wakana Furushima; Noriko Sato
Journal:  Brain Dev       Date:  2008-10-11       Impact factor: 1.961

5.  [Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy].

Authors:  M Vázquez-López; Y Ruiz-Martín; P de Castro-Castro; C Garzo-Fernández; F Martín-del Valle; L Márquez-de la Plata
Journal:  Rev Neurol       Date:  2008 Aug 16-31       Impact factor: 0.870

6.  Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Authors:  Monika Bekiesinska-Figatowska; Hanna Mierzewska; Arleta Kuczynska-Zardzewialy; Elzbieta Szczepanik; Ewa Obersztyn
Journal:  Brain Dev       Date:  2009-08-22       Impact factor: 1.961
  6 in total
  3 in total

1.  More than hypomyelination in Pol-III disorder.

Authors:  Adeline Vanderver; Davide Tonduti; Genevieve Bernard; Jinping Lai; Christopher Rossi; Giovanni Carosso; Martha Quezado; Kondi Wong; Raphael Schiffmann
Journal:  J Neuropathol Exp Neurol       Date:  2013-01       Impact factor: 3.685

2.  Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Authors:  Emma Billington; Geneviève Bernard; William Gibson; Bernard Corenblum
Journal:  Case Rep Endocrinol       Date:  2015-05-31

3.  Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Authors:  Roberta Battini; Silvano Bertelloni; Guja Astrea; Manuela Casarano; Lorena Travaglini; Giampiero Baroncelli; Rosa Pasquariello; Enrico Bertini; Giovanni Cioni
Journal:  BMC Med Genet       Date:  2015-07-25       Impact factor: 2.103
  3 in total

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