Experts and Doctors on developmental disabilities in Strasbourg, Alsace Champagne Ardenne Lorraine, France
Locale: Strasbourg, Alsace Champagne Ardenne Lorraine, France
Topic: developmental disabilities
Nithart C, Demont E, Majerus S, Leybaert J, Poncelet M, Metz Lutz M. Reading disabilities in SLI and dyslexia result from distinct phonological impairments. Dev Neuropsychol. 2009;34:296-311 pubmed publisher
Aliferis K, Marsal C, Pelletier V, Doray B, Weiss M, Tops C, et al
. A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly. Ophthalmic Genet. 2010;31:205-8 pubmed publisher
..In Peters plus syndrome B3GALTL molecular test provides diagnosis confirmation and improves dramatically genetic counselling for the families. ..
Hufnagel R, Arno G, Hein N, Hersheson J, Prasad M, Anderson Y, et al
. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015;52:85-94 pubmed publisher
Ivanova E, Mau Them F, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, et al
. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. Am J Hum Genet. 2017;101:428-440 pubmed publisher
..We propose that mutations in TBC1D23 are responsible for a form of PCH with small, normally proportioned cerebellum and should be screened in individuals with syndromic pontocereballar hypoplasia. ..
Niturad C, Lev D, Kalscheuer V, Charzewska A, Schubert J, Lerman Sagie T, et al
. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain. 2017;140:2879-2894 pubmed publisher