5 Result(s)
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Article
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of chi...
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Article
Open AccessRare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the hig...
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Article
Open AccessExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by u...
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Article
Open AccessNatural history of Barth syndrome: a national cohort study of 22 patients
This study describes the natural history of Barth syndrome (BTHS).
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Article
Open AccessScreening for primary creatine deficiencies in French patients with unexplained neurological symptoms
A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...
