Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.
Rodríguez-Pascau, Laura; Toma, Claudio; Macías-Vidal, Judit; Cozar, Mónica; Cormand, Bru; Lykopoulou, Lilia; Coll, Maria Josep; Grinberg, Daniel; Vilageliu, Lluïsa.
Mol Genet Metab
; 107(4): 716-20, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23142039
[Research advances in diagnosis and therapy of Niemann-Pick disease type C].
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
[Niemann-Pick type C disease: pathophysiology, diagnosis and treatment].
Niemann-Pick type C: focus on the adolescent/adult onset form.
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
The unique case of the Niemann-Pick type C cholesterol storage disorder.
Immune dysfunction in Niemann-Pick disease type C.
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.