Publications by authors named "Laurence Lion-François"

29Publications

Normal intellectual skills in patients with Rhombencephalosynapsis.

Eur J Paediatr Neurol 2020 Sep 30. Epub 2020 Sep 30.

Department of Pediatric Neurology, Competence Centre for Cerebellar Malformations, Lyon University Hospital, F-69677, Bron, France; University Lyon 1, F-69008, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.09.007DOI Listing
September 2020

Craniofacial bone alterations in patients with neurofibromatosis type 1.

Childs Nerv Syst 2020 Oct 25;36(10):2391-2399. Epub 2020 Jun 25.

Université Claude Bernard Lyon 1, 43 Boulevard du 11 Novembre 1918, 69100, Villeurbanne, France.

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http://dx.doi.org/10.1007/s00381-020-04749-6DOI Listing
October 2020

Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease.

Neurology 2020 05 12;94(21):e2189-e2202. Epub 2020 May 12.

From the Neurology Department (A.P., P.C., J.-M.T., F.W.), AP-HP, Lariboisière University Hospital; National Reference Centre for Wilson's Disease (A.P., P.C., J.-M.T., F.W.), AP-HP, Lariboisière University Hospital, Paris; Hepatobiliary Centre (R.S., D.C., D.S., J.-C.D.-V.), DHU Hepatinov, UMR-1193, AP-HP, Paul Brousse Hospital, Villejuif; Service de Neurologie (W.G.M.), CHU Bordeaux; Université de Bordeaux (W.G.M.), Institut des Maladies Neurodégénératives, CNRS UMR 5393, France; Department of Medicine (W.G.M.), University of Otago and New Zealand Brain Research Institute (W.G.M.), Christchurch; Hepatology, Gastroenterology and Nutrition Department (A.-S.B., A.L.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon; National Reference Centre for Wilson's Disease (A.-S.B., E.B., C.L., L.L.-F., O.G., A.L.), Hospices Civils de Lyon; Neurology Department (E.B., C.L.), Hôpital Neurologique Pierre-Wertheimer, Hospices Civils de Lyon; CNRS (E.B., C.L.), UMR 5229, Institut des Sciences Cognitives Marc-Jeannerod, Bron; Faculté de Médecine Lyon Sud Charles-Mérieux (E.B., C.L., A.L.), Université Claude-Bernard Lyon 1; Neurology and Paediatrics Department (L.L.-F.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron; Hepatogastroenterology Department (O.G.), Edouard Herriot Hospital, Hospices Civils de Lyon; Internal Medicine Department (F.M.), National Reference Centre for Inborn Errors of Metabolism, Université François Rabelais; Neurology Department (J.B.), CHRU Bretonneau, Tours; Surgery, Oncology and Liver Transplantation Department (E.S.), CHRU Tours; Hepatology and Gastroenterology Department (C.V.) and Surgery and Liver Transplantation Department (B.H.), CHU Besançon; Neurology and Paediatrics Department (C. Bellesme), AP-HP, Bicêtre University Hospital, Kremlin-Bicetre; Pediatric Hepatology and Pediatric Liver Transplantation Unit (U.H) and National Reference Centre for Rare Pediatric Liver Diseases (U.H), Bicêtre University Hospital, Faculty of Medicine Paris-Sud, University of Paris-Sud 11, DHU Hepatinov, AP-HP, Le Kremlin Bicêtre; INSERM (D.H.), UMR-S1174, Hepatinov, University of Paris Sud 11, Orsay; Hepatology and Gastroenterology Department (C. Bureau) and Neurology Department (F.O.-M.), CHU Toulouse; Centre D'investigation de la Fibrose Hépatique (V.L.), Hôpital Haut-Lévêque, CHU Bordeaux; and INSERM U1053 (V.d.L.), Université de Bordeaux, France. A. Poujois is currently at Neurology Department, Rothschild Foundation Hospital, and National Reference Centre for Wilson's Disease, Rothschild Foundation Hospital, Paris.

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http://dx.doi.org/10.1212/WNL.0000000000009474DOI Listing
May 2020

Increased diagnostic yield in complex dystonia through exome sequencing.

Parkinsonism Relat Disord 2020 05 20;74:50-56. Epub 2020 Apr 20.

Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.parkreldis.2020.04.003DOI Listing
May 2020

Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

Epileptic Disord 2018 Aug;20(4):289-294

Service de Neurologie Pédiatrique, HFME, Hospices Civils de Lyon, Centre de Référence des Épilepsies Rares (CReER)Maladies, HFME-HCL, Lyon, France.

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http://dx.doi.org/10.1684/epd.2018.0988DOI Listing
August 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se.

J Atten Disord 2020 Nov 6;24(13):1807-1823. Epub 2017 Jun 6.

Laboratoire d'Étude des Mécanismes Cognitifs, EA 3082, Université de Lyon, Université Lumière-Lyon 2, Lyon, France.

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http://dx.doi.org/10.1177/1087054717707579DOI Listing
November 2020

Cognitive Abilities of Children With Neurological and Liver Forms of Wilson Disease.

J Pediatr Gastroenterol Nutr 2017 03;64(3):436-439

*Department of Pediatric Gastroenterology, Hepatology and Nutrition, French National Centre for Wilson's Disease, Children and Mother's Hospital of Lyon, Bron †Department of Neurology C, Pierre Wertheimer Neurological Hospital of Lyon, Bron ‡Department of Pediatric Neurology, Children and Mother's Hospital of Lyon, Bron §Reference Centre for Inherited Metabolic Disorder, Children's Hospital of Nancy, Vandoeuvre-lès-Nancy ||Department of Hepatology, Competency Centre for Wilson's Disease, Jean Minjoz Hospital, Besançon ¶Department of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Nancy, Vandoeuvre-lès-Nancy #Regional Centre for Learning and Language Disorders of Children, Jean Minjoz Hospital, Besançon **Department of Medicine, University Claude Bernard Lyon 1, Vileurbanne, France.

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http://dx.doi.org/10.1097/MPG.0000000000001346DOI Listing
March 2017

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.

Eur J Paediatr Neurol 2016 Mar 17;20(2):275-281. Epub 2015 Dec 17.

Hôpital des Enfants, CHU Purpan, Toulouse, France; Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Toulouse, France; Université de Toulouse III - Paul Sabatier, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.002DOI Listing
March 2016

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Eur J Paediatr Neurol 2014 Mar 18;18(2):176-82. Epub 2013 Nov 18.

Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.005DOI Listing
March 2014

Reactivity to visual signals in neurofibromatosis type 1: is everything ok?

Neuropsychology 2014 May 25;28(3):423-8. Epub 2013 Nov 25.

Service de Neurologie pédiatrique, Hôpital Femme Mère Enfant.

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http://dx.doi.org/10.1037/neu0000046DOI Listing
May 2014

Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.

J Physiol 2011 Jul 26;589(Pt 13):3115-24. Epub 2011 Apr 26.

University of Nice Sophia-Antipolis, and UMR 6097 CNRS-TIANP, Nice, France.

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http://dx.doi.org/10.1113/jphysiol.2011.207977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145928PMC
July 2011

Correlation between pre- or postoperative MRI findings and cerebellar sequelae in patients with medulloblastomas.

Pediatr Blood Cancer 2010 Dec;55(7):1310-6

Pediatric Neurosurgical Department, Neurological and Neurosurgical Pierre Wertheimer Hospital, Lyon, France.

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http://dx.doi.org/10.1002/pbc.22802DOI Listing
December 2010

Reactivity to visual signals and the cerebellar vermis: Evidence from a rare case with rhombencephalosynapsis.

Behav Neurosci 2009 Feb;123(1):86-96

Université Lumière-Lyon 2, Laboratoire d'Etude des Mécanismes Cognitifs, Département de Psychologie Cognitive Expérimentale & Neuropsychologie, Bron Cedex, France.

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http://doi.apa.org/getdoi.cfm?doi=10.1037/a0013726
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http://dx.doi.org/10.1037/a0013726DOI Listing
February 2009

[Convulsions in infants and children].

Rev Prat 2006 Jan;56(2):201-5

Service de Neurologie Pédiatrique, Hôpital Debrousse, Lyon.

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January 2006

Acute mesencephalic stroke associated with dilated cystic perivascular spaces.

Neurology 2005 Aug;65(4):648

Service de Radiologie, Hôpital de la Croix Rousse, 103 grande rue de la Croix Rousse, 69317 Lyon cedex 04, France.

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http://www.neurology.org/cgi/doi/10.1212/01.wnl.0000178167.9
Publisher Site
http://dx.doi.org/10.1212/01.wnl.0000178167.96418.ffDOI Listing
August 2005

[The main stages of psychomotor development from 0 to 3 years of age].

Rev Prat 2004 Nov;54(18):1991-7

Service de neurologie pédiatrique, hôpital Debrousse, hospices civils de Lyon, 69002 Lyon.

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November 2004