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  1. No Access

    Article

    Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

    Boris Keren, Aurélia Jacquette, Christel Depienne, Patricia Leite… in neurogenetics (2010)

  2. No Access

    Article

    Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

    Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection1,2. Evidence exists for a perturbation of innat...

    Yanick J Crow, Bruce E Hayward, Rekha Parmar, Peter Robins… in Nature Genetics (2006)

  3. No Access

    Article

    Unexplained mental retardation: is brain MRI useful?

    Background: Mental retardation (MR), defined as an IQ below 70, is a frequent cause of consultation in paediatrics. Objective: To evaluate the yield of brain MRI in the diagnostic work-up of unexplained MR in chi...

    Fabrice Decobert, Sophie Grabar, Valerie Merzoug, Gabriel Kalifa… in Pediatric Radiology (2005)

  4. No Access

    Article

    Agenesis of corpus callosum: prenatal diagnosis and prognosis

    Agenesis of corpus callosum (ACC) is commonly diagnosed prenatally. When isolated, it appears to carry a good prognosis but studies are often retrospective and follow-up short. We report a prospective study of...

    Marie-Laure Moutard, Virginie Kieffer, Josué Feingold… in Child's Nervous System (2003)

  5. No Access

    Chapter

    Molecular Basis of Mitochondrial DNA Diseases

    The concept of mitochondrial disease was first described in 1962, in a patient with hypermetabolism of nonthyroid origin associated with defective mitochondrial coupling1 (reviewed by Luft 1994). Between 1960 and...

    P. Lestienne, M. F. Bouzidi, Isabelle Desguerre, Gérard Ponsot in Mitochondrial Diseases (1999)

  6. No Access

    Article

    Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

    We report studies of four patients with pyruvate dehydrogenase complex (PDH) deficiency caused by mutations in the E1α subunit. Two unrelated male patients presented with Leigh syndrome and a R263G missense m...

    Cécile Marsac, Chantal Benelli, Isabelle Desguerre, Monique Diry… in Human Genetics (1997)

  7. No Access

    Article

    Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

    Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia resulting in a particular, recognizable facies and osteoarticular ab...

    B. Fontaine, Sophie Nicole, Haluk Topaloglu, C. Ben Hamida… in Human Genetics (1996)

  8. Article

    Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

    ABSTRACT: Pyruvate dehydrogenase (PDH)-Elα deficiency has recently been studied at the molecular-genetic level. The gene is situated on the X chromosome. We report on an unusual mutation in a familial Elα defi...

    Linda De Meirleir, Willy Lissens, Chantal Benelli, Gerard Ponsot… in Pediatric Research (1994)

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  9. Article

    El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

    ABSTRACT: We report the case of a boy who developed a motor neuropathy during infectious episodes at 18 mo and 3 y of age. When he was 7 y old, he suffered persistent weakness and areflexia; his resting lactat...

    Gisèle Bonne, Chantal Benelli, Linda De Meirleir, Willy Lissens… in Pediatric Research (1993)

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