Publications by authors named "Fanny Mochel"

99Publications

MRI of neurodegeneration with brain iron accumulation.

Curr Opin Neurol 2020 Aug;33(4):462-473

Paris Brain Institute, Institut du Cerveau et de la Moelle épinière - ICM, INSERM U 1127, CNRS UMR 7225, Sorbonne Université, Team 'Movement Investigations and Therapeutics' (MOV'IT).

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http://dx.doi.org/10.1097/WCO.0000000000000844DOI Listing
August 2020

Lipids in the Physiopathology of Hereditary Spastic Paraplegias.

Front Neurosci 2020 28;14:74. Epub 2020 Feb 28.

Sorbonne Université, Paris, France.

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http://dx.doi.org/10.3389/fnins.2020.00074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059351PMC
February 2020

Ureaplasma parvum causes hyperammonemia presenting as refractory status epilepticus after kidney transplant.

J Crit Care 2020 Jun 5;57:79-83. Epub 2020 Feb 5.

Fondation Ophtalmologique Adolphe de Rothschild, Department of Neurointensive Care, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcrc.2020.02.003DOI Listing
June 2020

A high prevalence of arterial hypertension in patients with mitochondrial diseases.

J Inherit Metab Dis 2020 May 15;43(3):478-485. Epub 2019 Dec 15.

Cardiology Department, AP-HP, Cochin Hospital, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris, France.

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http://dx.doi.org/10.1002/jimd.12195DOI Listing
May 2020

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2020 04 6;91(4):444-445. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

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http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
April 2020

No effect of triheptanoin on exercise performance in McArdle disease.

Ann Clin Transl Neurol 2019 10 14;6(10):1949-1960. Epub 2019 Sep 14.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/acn3.50863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801166PMC
October 2019

Education and training in adult metabolic medicine: Results of an international survey.

JIMD Rep 2019 Sep 21;49(1):63-69. Epub 2019 Jun 21.

Reference Center for Neurometabolic Diseases La Pitié-Salpêtriere University Hospital Paris France.

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http://dx.doi.org/10.1002/jmd2.12044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718119PMC
September 2019

Multi-omics signature of brain amyloid deposition in asymptomatic individuals at-risk for Alzheimer's disease: The INSIGHT-preAD study.

EBioMedicine 2019 Sep 3;47:518-528. Epub 2019 Sep 3.

ICM Institut du Cerveau et de la Moelle épinière, CNRS UMR7225, INSERM U1127, UPMC, Hôpital de la Pitié-Salpêtrière, 47 Bd de l'Hôpital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2019.08.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796577PMC
September 2019

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Tremor Other Hyperkinet Mov (N Y) 2019 17;9. Epub 2019 Jul 17.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.

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http://dx.doi.org/10.7916/tohm.v0.641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767PMC
January 2020

Diagnosis, prognosis, and treatment of leukodystrophies.

Lancet Neurol 2019 10 12;18(10):962-972. Epub 2019 Jul 12.

Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Amsterdam Neuroscience, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S1474-4422(19)30143-7DOI Listing
October 2019

Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutations.

Brain Dev 2019 Oct 10;41(9):808-811. Epub 2019 Jun 10.

AP-HP, Robert Debré Hospital, Department of Pediatric Neurology, Paris, France; Université de Paris, INSERM UMR1141, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2019.05.008DOI Listing
October 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 06 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

Severe transient myopathy in a patient with progressive multiple sclerosis and high-dose biotin.

Neurology 2019 05 26;92(22):1060-1062. Epub 2019 Apr 26.

From the Department of Neurology (E.M.), Department of Genetics and Reference Centre for Adult Neurometabolic Diseases (F.M.), and Department of Neurophysiology and Neuropathology (T.M.), AP-HP, Hôpital Pitié-Salpêtrière; Institut du Cerveau et de la Moelle Épinière, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225 (F.M., B.S.), Sorbonne Université, Paris, France; Laboratory of Inborn Errors of Metabolism (C.A.), Centre Hospitalier Universitaire de Lyon, France; and Department of Neurology (B.S.), AP-HP, Hôpital Saint-Antoine, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007576DOI Listing
May 2019

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.

J Inherit Metab Dis 2019 07 24;42(4):706-727. Epub 2019 Apr 24.

Neurology Department, Neurometabolic Unit and Synaptic Metabolism Lab, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, metabERN and CIBERER-ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1002/jimd.12086DOI Listing
July 2019

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Neuron 2019 02;101(4):560-583

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2019.01.049DOI Listing
February 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Domino liver transplantation: the risk of disease recurrence.

Clin Res Hepatol Gastroenterol 2019 10 14;43(5):510-512. Epub 2019 Feb 14.

AP-HP, hôpital Pitié-Salpêtrière, service d'hépato-gastroentérologie, unité médicale de transplantation hépatique, 75013 Paris, France; Sorbonne universités, UPMC université Paris 06, Inserm, UMR_S 938, CDR Saint-Antoine, institute of cardiometabolism and nutrition (ICAN), Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2019.01.004DOI Listing
October 2019

Biallelic variants in and cause deafness and (ovario)leukodystrophy.

Neurology 2019 03 8;92(11):e1225-e1237. Epub 2019 Feb 8.

From the Departments of Child Neurology (M.S.v.d.K., M. Breur) and Neuropathology (M. Bugiani, M. Breur), and Metabolic Unit, Department of Clinical Chemistry (M.I.M., D.E.C.S., G.S.S.), Amsterdam University Medical Centers and Amsterdam Neuroscience; Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands; Genetic Metabolic Disorders Research Unit (L.G.R., J. Christodoulou), The Children's Hospital at Westmead, and Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Architecture et Réactivité de l'ARN (J.R.-T., M.F.), UPR 9002, Université de Strasbourg, CNRS, Strasbourg, France; Institute for Molecular Bioscience (J. Crawford, C.S.), University of Queensland, St. Lucia, Queensland, Australia; Department of Neurology (J.v.G.), Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen; Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Departement Génétique Médicale (M.W.), Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHRU de Montpellier, France; Department of Clinical Genetics (Q.W.), Amsterdam University Medical Centers, the Netherlands; UF Innovation en Diagnostic Génomique des Maladies Rares (F.T.M.-T.), Centre Hospitalier Universitaire de Dijon, France; Radboud Center for Mitochondrial Medicine (R.J.R.), Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands; Illumina Inc. (R.J.T.), San Diego, CA; AP-HP (B.K., F.M.), La Pitié-Salpêtrière University Hospital, Department of Genetics, Paris; INSERM U 1127 (B.K., C.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Murdoch Children's Research Institute (J. Christodoulou, C.S.), Parkville, Victoria, Australia; Department of Paediatrics (J. Christodoulou), University of Melbourne, Australia; Institute of Human Genetics (C.D.), University Hospital Essen, University Duisburg-Essen, Germany; and Sorbonne Universités (F.M.), Neurometabolic Clinical Research Group, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000007098DOI Listing
March 2019

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.

Cell Rep 2019 01;26(5):1189-1202.e6

Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurobiology, Duke University School of Medicine, Durham, NC 27710, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC 27710, USA; Duke Center for Neurodegeneration & Neurotherapeutics, Duke University School of Medicine, Durham, NC 27710, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420346PMC
January 2019

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Lancet Diabetes Endocrinol 2019 02;7(2):82-84

Division of Endocrinology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/S2213-8587(18)30369-3DOI Listing
February 2019

Making a 'JUMP' from paediatric to adult healthcare: A transitional program for young adults with chronic neurological disease.

J Neurol Sci 2018 12 26;395:77-83. Epub 2018 Sep 26.

APHP, Hôpital Salpêtrière, Département of Neurologie, Paris, France; Sorbonne Université, Faculté de Médecine, CNRS UMR 7225, UMR S1127 Institut du Cerveau et de la Moelle Épinière, France.

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http://dx.doi.org/10.1016/j.jns.2018.09.030DOI Listing
December 2018

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

Neuroimage Clin 2018 14;19:858-867. Epub 2018 Jun 14.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005808PMC
January 2019

The phenotype of adult versus pediatric patients with inborn errors of metabolism.

J Inherit Metab Dis 2018 09 6;41(5):753-756. Epub 2018 Jun 6.

Groupe de Recherche Clinique Neurométabolique, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s10545-018-0209-9DOI Listing
September 2018

Lipids and synaptic functions.

Authors:
Fanny Mochel

J Inherit Metab Dis 2018 11 4;41(6):1117-1122. Epub 2018 Jun 4.

Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and ICM, F-75013, Paris, France.

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http://dx.doi.org/10.1007/s10545-018-0204-1DOI Listing
November 2018

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2018 18;8:554. Epub 2018 Apr 18.

Sorbonne Universités, UPMC-Paris 6, UMR S 1127, ICM, Paris, France.

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http://dx.doi.org/10.7916/D8VM5VBQDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540PMC
November 2018

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes.

J Inherit Metab Dis 2018 09 20;41(5):799-807. Epub 2018 Mar 20.

Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10545-018-0162-7DOI Listing
September 2018

Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

Mitochondrion 2019 03 21;45:22-28. Epub 2018 Feb 21.

Sorbonne Université, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, F-75013, Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.02.001DOI Listing
March 2019

Targeted versus untargeted omics - the CAFSA story.

J Inherit Metab Dis 2018 05 8;41(3):447-456. Epub 2018 Feb 8.

Université Pierre et Marie Curie, Groupe de Recherche Clinique Neurométabolique et Centre de Référence Neurométabolique Adulte, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0134-3DOI Listing
May 2018

Expanded neurochemical profile in the early stage of Huntington disease using proton magnetic resonance spectroscopy.

NMR Biomed 2018 03 9;31(3). Epub 2018 Jan 9.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1002/nbm.3880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841244PMC
March 2018

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

J Inherit Metab Dis 2018 09 6;41(5):877-883. Epub 2017 Nov 6.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Brain and Spine Institute, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0103-xDOI Listing
September 2018

A strategy for multimodal data integration: application to biomarkers identification in spinocerebellar ataxia.

Brief Bioinform 2018 11;19(6):1356-1369

Bioinformatics and Biostatistics Core Facility of the Brain and Spine Institute, La Pitié-Salpêtriére Hospital, Paris, France.

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http://dx.doi.org/10.1093/bib/bbx060DOI Listing
November 2018

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

Ann Neurol 2017 Dec 21;82(6):892-899. Epub 2017 Nov 21.

Department of Neurology, Hautepierre Hospital, University Hospitals of Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/ana.25084DOI Listing
December 2017

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Am J Hum Genet 2017 Oct 28;101(4):630-637. Epub 2017 Sep 28.

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Centre de Référence des Surdités Génétiques, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630197PMC
October 2017

Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.

J Hepatol 2017 Sep 20. Epub 2017 Sep 20.

Brain Liver Pitié-Salpêtrière (BLIPS) study group, Groupement Hospitalier Pitié-Salpêtrière-Charles Foix, Assistance Publique - Hôpitaux de Paris, Paris, France; Université Pierre et Marie Curie Paris 6, Sorbonne Universités, INSERM UMR_S 938, CDR Saint-Antoine Maladies métaboliques, biliaires et fibro-inflammatoires du foie, & Institut de Cardiométabolisme et Nutrition, ICAN, Paris, France; UF de Soins Intensifs d'Hépato-gastroentérologie, Groupement Hospitalier Pitié-Salpêtrière-Charles Foix, Assistance Publique - Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2017.09.009DOI Listing
September 2017

Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.

Eur J Med Genet 2017 Dec 14;60(12):639-642. Epub 2017 Aug 14.

AP-HP, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Université Pierre et Marie Curie, Groupe de Recherche Clinique Neurométabolique, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.015DOI Listing
December 2017

Triheptanoin for the treatment of brain energy deficit: A 14-year experience.

Authors:
Fanny Mochel

J Neurosci Res 2017 11 8;95(11):2236-2243. Epub 2017 Jul 8.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1002/jnr.24111DOI Listing
November 2017

Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome.

Sleep Med 2017 08 27;36:184-185. Epub 2017 May 27.

Sleep Disorders Unit, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France; University-Hospital Institute, ICM, UPMC-Paris 6, Inserm U 1127, CNRS UMR 722, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2017.05.001DOI Listing
August 2017

Imaging and spectroscopic approaches to probe brain energy metabolism dysregulation in neurodegenerative diseases.

J Cereb Blood Flow Metab 2017 Jun 9;37(6):1927-1943. Epub 2017 Mar 9.

1 Commissariat à l'Energie Atomique et aux Energies Alternatives (CEA), Département de la Recherche Fondamentale (DRF), Institut d'Imagerie Biomédicale (I2BM), Molecular Imaging Research Center (MIRCen), CNRS UMR 9199, Université Paris-Sud, Université Paris-Saclay, Fontenay-aux-Roses, France.

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http://dx.doi.org/10.1177/0271678X17697989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464722PMC
June 2017

Low cancer prevalence in polyglutamine expansion diseases.

Neurology 2017 Mar 15;88(12):1114-1119. Epub 2017 Feb 15.

From ICM Institut du Cerveau et de la Moelle Épinière (G.C., D.R., A.B., F.M., A.D.), Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127; Sorbonne Universités (A.D., S.T.d.M.), UPMC Univ Paris 06 UMR_S1136; INSERM UMR_S 1136 (A.D., S.T.d.M.), Institut Pierre Louis d'Epidémiologie et de Santé Publique; Institut Curie (M.S.T.), Paris; University Paris Sud 11 (M.S.T.), Orsay; CIC (F.C.), CHRU Pierre-Paul Riquet Hospital, Toulouse; CHU de Strasbourg-Hôpital de Hautepierre (O.L.B., C.T., M.A.); Fédération de Médecine Translationnelle de Strasbourg (FMTS) (O.L.B., C.T., M.A.), Université de Strasbourg; Department of Genetics (A.T., P.C., C.E., M.T., M.-L.M., A.B., F.M., A.D.) and Unit of Biostatistics (S.T.d.M.), APHP Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Charles-Foix University Hospital, Paris; Service de Neurologie (C.M., B.C.), CHRU Gui de Chauliac, Montpellier; Grenoble Alpes (S.H.), Grenoble Institut des Neurosciences; and INSERM (S.H.), U1216, Grenoble, France.

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http://dx.doi.org/10.1212/WNL.0000000000003725DOI Listing
March 2017

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Orphanet J Rare Dis 2017 02 2;12(1):22. Epub 2017 Feb 2.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1186/s13023-017-0579-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289046PMC
February 2017

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Orphanet J Rare Dis 2016 Apr 16;11:41. Epub 2016 Apr 16.

AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
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http://dx.doi.org/10.1186/s13023-016-0419-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833925PMC
April 2016

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dev Med Child Neurol 2015 Dec 23;57(12):1183-6. Epub 2015 Sep 23.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12927DOI Listing
December 2015

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Brain 2016 Jan 21;139(Pt 1):e4. Epub 2015 Aug 21.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 7 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv248DOI Listing
January 2016

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

Eur Heart J 2015 Nov 29;36(42):2886-93. Epub 2015 Jul 29.

AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, 75651 Paris Cedex 13, France Pierre et Marie Curie-Paris 6 University, Myology Institute, Pitié-Salpêtrière Hospital, Paris 75013, France.

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http://dx.doi.org/10.1093/eurheartj/ehv307DOI Listing
November 2015

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Biochem Biophys Res Commun 2015 Sep 26;465(1):35-40. Epub 2015 Jul 26.

Atlantic Research Centre, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada; Atlantic Research Centre, Department of Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.07.112DOI Listing
September 2015

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Quantification of in vivo ³¹P NMR brain spectra using LCModel.

NMR Biomed 2015 Jun 14;28(6):633-41. Epub 2015 Apr 14.

Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1002/nbm.3291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438275PMC
June 2015

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7.

Mov Disord 2015 Apr 15;30(5):662-70. Epub 2015 Mar 15.

INSERM U 1127, Sorbonne Universités, UPMC Univ Paris Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1002/mds.26181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397159PMC
April 2015

Triheptanoin improves brain energy metabolism in patients with Huntington disease.

Neurology 2015 Feb 7;84(5):490-5. Epub 2015 Jan 7.

From Inserm U 1127 (I.M.A., D.R., R.V., A.D., F.M.), CNRS UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Center for Magnetic Resonance Research (P.-G.H.), University of Minnesota, Minneapolis; Departments of Dietetics (S.C.) and Genetics (A.D., F.M.), AP-HP, Pitié-Salpêtrière University Hospital, Paris; and Center for NeuroImaging Research (R.V.), Institut du Cerveau et de la Moelle épinière, Paris, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000121
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http://dx.doi.org/10.1212/WNL.0000000000001214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336068PMC
February 2015

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

J Inherit Metab Dis 2015 Jan 21;38(1):19-40. Epub 2014 Nov 21.

Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu and CIBERER, ISCIII, Barcelona, Spain,

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http://dx.doi.org/10.1007/s10545-014-9776-6DOI Listing
January 2015

An overview of inborn errors of complex lipid biosynthesis and remodelling.

J Inherit Metab Dis 2015 Jan 20;38(1):3-18. Epub 2014 Sep 20.

Bioclinic and Genetic Unit of Neurometabolic Diseases, Pitié-Salpêtrière Hospital, (APHP), Paris, 75013, France.

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http://dx.doi.org/10.1007/s10545-014-9764-xDOI Listing
January 2015

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

J Neurol Neurosurg Psychiatry 2015 Jun 11;86(6):646-54. Epub 2014 Aug 11.

INSERM U1016, Institut Cochin; CNRS UMR 8104, Paris, France Service de Biochimie Métabolique et Centre de Génétique moléculaire et chromosomique, AP-HP, GHU Pitié-Salpêtrière, Paris, France Université Paris-Descartes-Paris5, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2013-306799DOI Listing
June 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Two-site reproducibility of cerebellar and brainstem neurochemical profiles with short-echo, single-voxel MRS at 3T.

Magn Reson Med 2015 May 19;73(5):1718-25. Epub 2014 Jun 19.

Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1002/mrm.25295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272339PMC
May 2015

Reply: To PMID 23034915.

Ann Neurol 2013 Feb;73(2):318

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http://dx.doi.org/10.1002/ana.23855DOI Listing
February 2013

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

J Neurol Sci 2013 Jan 10;324(1-2):179-82. Epub 2012 Nov 10.

AP-HP, Service de neurologie, Hôpital Avicenne, Bobigny, France.

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http://dx.doi.org/10.1016/j.jns.2012.10.015DOI Listing
January 2013

Abnormal response to cortical activation in early stages of Huntington disease.

Mov Disord 2012 Jun 19;27(7):907-10. Epub 2012 Apr 19.

INSERM UMR S975, Institut du Cerveau et de la Moelle, Hôpital La Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/mds.25009DOI Listing
June 2012

The search for sensitive biomarkers in presymptomatic Huntington disease.

J Cereb Blood Flow Metab 2012 May 29;32(5):769-70. Epub 2012 Feb 29.

Department of Radiology, Center for Magnetic Resonance Research, University of Minnesota Medical School, 2021 6th Street SE, Minneapolis, MN 55455, USA.

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http://dx.doi.org/10.1038/jcbfm.2012.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3345907PMC
May 2012

Early alterations of brain cellular energy homeostasis in Huntington disease models.

J Biol Chem 2012 Jan 28;287(2):1361-70. Epub 2011 Nov 28.

INSERM UMR S975 and Assistance-Publique des Hôpitaux de Paris, Department of Genetics, Hôpital La Salpêtrière, 75013 Paris, France.

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http://dx.doi.org/10.1074/jbc.M111.309849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3256882PMC
January 2012

Genetic testing and counseling for hereditary neurological diseases in Mali.

J Community Genet 2011 Mar 22;2(1):33-42. Epub 2011 Feb 22.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA,

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http://dx.doi.org/10.1007/s12687-011-0038-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3186021PMC
March 2011

Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice.

PLoS One 2011 Mar 31;6(3):e18336. Epub 2011 Mar 31.

INSERM UMR S975, Institut du Cerveau et de la Moelle, Hôpital de La Salpêtrière, and Université Pierre et Marie Curie, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018336PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069081PMC
March 2011

Energy deficit in Huntington disease: why it matters.

J Clin Invest 2011 Feb 1;121(2):493-9. Epub 2011 Feb 1.

INSERM UMR S975, Institut du Cerveau et de la Moelle, Paris, France.

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http://dx.doi.org/10.1172/JCI45691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026743PMC
February 2011

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

Biochim Biophys Acta 2010 Nov 18;1802(11):1028-35. Epub 2010 Jun 18.

Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117462PMC
November 2010

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Eur J Med Genet 2008 Jan-Feb;51(1):68-73. Epub 2007 Nov 22.

INSERM U679, Hôpital de la Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.11.002DOI Listing
June 2008

Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential.

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):332-40

Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA.

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http://link.springer.com/10.1007/s10545-006-0290-3
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http://dx.doi.org/10.1007/s10545-006-0290-3DOI Listing
January 2007