Literature DB >> 11071150

Polymicrogyria and motor neuropathy in Micro syndrome.

M C Nassogne1, B Henrot, C Saint-Martin, H Kadhim, W B Dobyns, G Sébire.   

Abstract

Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new insights into developmental defects underlying motor and mental disabilities.

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Year:  2000        PMID： 11071150     DOI： 10.1055/s-2000-7463

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  7 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

3.  New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Authors:  Deborah J Morris-Rosendahl; Reeval Segel; A Peter Born; Christoph Conrad; Bart Loeys; Susan Sklower Brooks; Laura Müller; Christine Zeschnigk; Christina Botti; Ron Rabinowitz; Gökhan Uyanik; Marc-Antoine Crocq; Uwe Kraus; Ingrid Degen; Fran Faes
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

Review 4.  Current concepts of polymicrogyria.

Authors:  A James Barkovich
Journal:  Neuroradiology       Date:  2010-03-03       Impact factor: 2.804

5.  The association of RAB18 gene polymorphism (rs3765133) with cerebellar volume in healthy adults.

Authors:  Chih-Ya Cheng; Albert C Yang; Chu-Chung Huang; Mu-En Liu; Ying-Jay Liou; Jaw-Ching Wu; Shih-Jen Tsai; Ching-Po Lin; Chen-Jee Hong
Journal:  Cerebellum       Date:  2014-10       Impact factor: 3.847

6.  Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Authors:  Irene A Aligianis; Neil V Morgan; Marina Mione; Colin A Johnson; Elisabeth Rosser; Raoul C Hennekam; Gill Adams; Richard C Trembath; Daniela T Pilz; Neil Stoodley; Anthony T Moore; Steve Wilson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-02-14       Impact factor: 11.025

7.  A Homozygous RAB3GAP1:c.743delC Mutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration.

Authors:  T Mhlanga-Mutangadura; G S Johnson; A Ashwini; G D Shelton; S A Wennogle; G C Johnson; K Kuroki; D P O'Brien
Journal:  J Vet Intern Med       Date:  2016-03-10       Impact factor: 3.175
  7 in total

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