Daisy Rinaldi

Daisy Rinaldi

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Daisy Rinaldi

Daisy Rinaldi

Publications by authors named "Daisy Rinaldi"

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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Neurobiol Aging 2020 Feb 21. Epub 2020 Feb 21.

Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), FrontLab, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.02.014DOI Listing
February 2020

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

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

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Neurobiol Aging 2018 12 30;72:187.e11-187.e14. Epub 2018 Jun 30.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.037DOI Listing
December 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

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

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

JAMA Neurol 2018 02;75(2):236-245

Sorbonne Universités, Université Pierre et Marie Curie Paris 06, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut du Cerveau et la Moelle, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2017.4266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838615PMC
February 2018

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Neurol Genet 2017 Dec 13;3(6):e203. Epub 2017 Dec 13.

INSERM U1127 (M.B., A.C., P.C., C.F., D.R., A.B., I.L.B.), CNRS UMR 7225, UPMC Université Paris 06 UMR S1127, Sorbonne Université Institut du Cerveau et de la Moelle épinière, ICM; Ecole Pratique des Hautes Etudes-EPHE (A.C.), PSL Research University; Institute of Memory and Alzheimer's Disease (IM2A) (M.H., P.C., D.R., I.L.B.), Centre of Excellence of Neurodegenerative Disease (CoEN), ICM, APHP Department of Neurology, Hopital Pitié-Salpêtrière, University Paris 6; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C., K.L.), Département de Génétique et Cytogénétique, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Carlo Besta Neurological Institute (P.C.), IRCCS Foundation, Milano, Italy; Assistance Publique-Hôpitaux de Paris (D.R., I.L.B.), Hôpital Pitié-Salpêtrière, Centre de référence Démences Rares, Paris, France; Université de Lille (F.P.), Inserm U1171, CHU Lille, Labex DistAlz, LiCEND, France; Department of Neurology (D.H.), University Hospital, Rouen, France; Département de Neurologie (J.P.), CHU Toulouse, Equipe TONIC, INSERM, Place du Dr Baylac, France; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, France; and Institut de Recherche pour le Développement (IRD) (A.S.), UMR216-MERIT, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730818PMC
December 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

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

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

Thalamocortical relationships and network synchronization in a new genetic model "in mirror" for absence epilepsy.

Brain Res 2013 Aug 3;1525:39-52. Epub 2013 Jun 3.

Epilepsie de l'Enfant et Plasticité Cérébrale, INSERM U 663, Paris, France.

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http://dx.doi.org/10.1016/j.brainres.2013.05.044DOI Listing
August 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