Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati, +11

Nature Genetics

Developmental BiologyMendelian DisorderJoubert SyndromeGenetic DisorderGenetics +7

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, +32

The American Journal of Human Genetics

Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderGeneticsDegenerative Disease +2

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo, +36

Human Mutation

ImmunodeficienciesGeneticsPathologyDisease Gene IdentificationKmt2d Target Genes +18

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi, +13

The American Journal of Human Genetics

Carbohydrate Sulfotransferase 3Recessive Larsen SyndromeOrthopaedic SurgeryCongenital Joint Dislocations

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, L Cianetti, Marcello Niceta, +16

The American Journal of Human Genetics

Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families

MA Melis, M. Cau, Francesco Muntoni, +6

European Journal of Paediatric Neurology

Serum Creatine KinaseUrologyIntragenic DeletionPathologyMedicine +1

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

Elena Manara, Stefano Paolacci, Fabiana D’Esposito, +14

˜The œItalian Journal of Pediatrics/Italian journal of pediatrics

Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

Chiara Floris, Stefania Rassu, Loredana Boccone, +3

European Journal of Human Genetics

Balanced TranslocationsSyndromic AutismGenetic DisorderGeneticsMolecular Biology +5

Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH

Loredana Boccone, Stefano Mariotti, Valentina Dessì, +3

European Journal of Medical Genetics

Neurodegenerative DiseasesSevere Neurologic FeaturesMendelian DisorderNeurological DisorderMedicine +8

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38

Marta Manes, Antonella Alberici, Eleonora Di Gregorio, +17

Annals of Neurology