Cecilia Marelli

Cecilia Marelli

UNVERIFIED PROFILE

Are you Cecilia Marelli?   Register this Author

Register author
Cecilia Marelli

Cecilia Marelli

Publications by authors named "Cecilia Marelli"

Are you Cecilia Marelli?   Register this Author

36Publications

1132Reads

18Profile Views

Spinal cord involvement in adult-onset metabolic and genetic diseases.

J Neurol Neurosurg Psychiatry 2019 Feb 27;90(2):211-218. Epub 2018 Aug 27.

Department of Neurology, Gui de Chauliac University Hospital, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2018-318666DOI Listing
February 2019

mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Neurol Genet 2018 Apr 20;4(2):e225. Epub 2018 Mar 20.

Department of Neurology (C.M., B.C.), Gui de Chauliac Montpellier University Hospital; EA7402 Institut Universitaire de Recherche Clinique (C.M., L.L., M.K., C.G.), and Laboratoire de Génétique Moléculaire, University Hospital; Maladies Sensorielles Génétiques (C.H., M.Q., C.D., E.S.), CHRU; INSERM U1051 (C.H., M.Q., C.D., E.S.), Institute for Neurosciences of Montpellier; Université Montpellier (C.H., M.Q., C.D., E.S.), France; INSERM UMR 1141 (D.C., P.R.), PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860906PMC
April 2018

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

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.

View Article

Download full-text PDF

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

Limiting Factors of Brain Donation in Neurodegenerative Diseases: The Example of French Memory Clinics.

J Alzheimers Dis 2016 ;49(4):1075-83

Memory Clinic, French National Reference Centre for Young Onset Alzheimer's disease, Lille University Hospital, INSERM U1171, LabEx DISTALZ, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-150825DOI Listing
October 2016

Cerebrospinal Fluid Alzheimer's Disease Biomarkers in Cerebral Amyloid Angiopathy-Related Inflammation.

J Alzheimers Dis 2016 ;50(3):759-764

Laboratoire de Biochimie-Protéomique Clinique -IRMB -CCBHM - Inserm U11183, CHU Montpellier, Hôpital St-Eloi - Université Montpellier, Montpellier Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-150621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294577PMC
October 2016

The P42 peptide and Peptide-based therapies for Huntington's disease.

Orphanet J Rare Dis 2016 Mar 17;11:24. Epub 2016 Mar 17.

Université de Montpellier, Montpellier F-34095, France; Inserm U1198 MMDN, Montpellier F-34095, France; EPHE, Paris F-75014, France, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0405-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794846PMC
March 2016

Late-onset behavioral variant of frontotemporal lobar degeneration versus Alzheimer's disease: Interest of cerebrospinal fluid biomarker ratios.

Alzheimers Dement (Amst) 2015 Sep 28;1(3):371-9. Epub 2015 Jun 28.

Department of Neurology and Memory Research and Resources Center, Gui de Chauliac University Hospital, Montpellier, France; CHRU de Montpellier, Université de Montpellier, Institute of Regenerative Medicine and Bio-therapy (IRMB), INSERM U1183, CCBHM, Laboratoire de Biochimie Protéomique Clinique, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dadm.2015.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878372PMC
September 2015

Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Mov Disord Clin Pract 2015 Mar 18;2(1):56-60. Epub 2015 Feb 18.

Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mdc3.12118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353525PMC
March 2015

Survival and severity in dominant cerebellar ataxias.

Ann Clin Transl Neurol 2015 Feb 7;2(2):202-7. Epub 2015 Jan 7.

AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338960PMC
February 2015

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Arch Neurol 2012 Jul;69(7):908-11

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique des Hôpitaux de Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.1526DOI Listing
July 2012

Exonic deletions of FXN and early-onset Friedreich ataxia.

Arch Neurol 2012 Jul;69(7):912-6

Université Pierre et Marie Curie, Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.834DOI Listing
July 2012

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Arch Neurol 2012 Apr;69(4):500-8

Department of Biostatistics and Medical Informatics, and Pitié-Salpêtrière Charles-Foix Clinical Research Unit, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.2713DOI Listing
April 2012

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity.

Mov Disord 2012 Jan 10;27(1):135-8. Epub 2011 Nov 10.

Université Pierre et Marie Curie-Paris6, Centre de Recherche de l'Institut du Cerveau et de la Moelle epiniere, UMR-S975, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.23879DOI Listing
January 2012

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.

Mov Disord 2008 Apr;23(6):892-5

Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.21970DOI Listing
April 2008

Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.

Mov Disord 2005 Feb;20(2):208-12

Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.20282DOI Listing
February 2005