About: Voit Thomas

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Attributs	Valeurs
type	Person
name	Voit Thomas
familyName	Voit
Given name	T. Thomas T
is relates of	http://hub.abes.fr/oup/periodical/brainj/2010/volume_133/issue_7/101093brainawq108/authorship/15 http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_5/101093hmgddg043/authorship/19 http://hub.abes.fr/oup/periodical/hmg/2000/volume_9/issue_15/101093oxfordjournalshmga018926/authorship/9 http://hub.abes.fr/bmj/periodical/thoraxjnl/2002/volume_57/issue_8/B35D41D8C59C7796E053120B220AD485/authorship/4 http://hub.abes.fr/oup/periodical/hmg/2001/volume_10/issue_25/101093hmg10252851/authorship/20 http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_21/101093hmgddg307/authorship/9 http://hub.abes.fr/oup/periodical/hmg/2001/volume_10/issue_1/101093hmg10163/authorship/8 http://hub.abes.fr/oup/periodical/hmg/2000/volume_9/issue_13/101093hmg9132059/authorship/6 http://hub.abes.fr/oup/periodical/hmg/2003/volume_12/issue_19/101093hmgddg264/authorship/10 http://hub.abes.fr/oup/periodical/hmg/2004/volume_13/issue_22/101093hmgddh303/authorship/16 http://hub.abes.fr/acs/periodical/bichaw/2006/volume_45/issue_9/101021bi0522504/authorship/9 http://hub.abes.fr/springer/periodical/431/1994/volume_153/issue_11/B90485A6977952DAE053120B220AAC7B/authorship/3 http://hub.abes.fr/springer/periodical/431/1992/volume_151/issue_2/B90485A6974152DAE053120B220AAC7B/authorship/1 http://hub.abes.fr/springer/periodical/431/1996/volume_155/issue_11/B90485A698AD52DAE053120B220AAC7B/authorship/6 http://hub.abes.fr/springer/periodical/439/1995/volume_96/issue_2/B9279D37F11C5861E053120B220A3025/authorship/2
is Author of	Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased α7 integrin, utrophin and associated glycoproteins Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease Autosomal dominant transmission of GLUT1 deficiency Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins onHereditary Inclusion Body Myopathy X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry Somatic mosaicism for a deletion of the dystrophin gene in a carrier of Becker muscular dystrophy Hyperintense lesions of the globus pallidus on MRI in children with chronic liver disease

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