Maria Del Mar Amador

Maria Del Mar Amador

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Maria Del Mar Amador

Maria Del Mar Amador

Publications by authors named "Maria Del Mar Amador"

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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

Neuroimage Clin 2019 28;21:101618. Epub 2018 Nov 28.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.101618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413472PMC
December 2019

Spastic paraplegia due to recessive or dominant mutations in can convert to ALS.

Neurol Genet 2019 Dec 13;5(6):e374. Epub 2019 Nov 13.

Institut du Cerveau et de la Moelle épinière (M.-D.-M.A., F.M., E.T., G.S., S.M.), ICM, Inserm U1127, CNRS UMR7225, Sorbonne Université; Département de Neurologie (M.-D.-M.A.), Assistance Publique Hôpitaux de Paris (APHP), Centre de Référence SLA Ile de France, Hôpital de la Pitié-Salpêtrière; Département de Génétique et Cytogénétique (G.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire, APHP, Hôpital Pitié-Salpêtrière, Paris; Centre SLA-MNM (V.D.-B.), Service de Neurologie et Pathologie du Mouvement, Hôpital Roger Salengro, Centre Hospitalier Universitaire (CHU) de Lille; Service de Rééducation Neurologique Cérébrolésion (E.A.), Hôpital Swynghedauw, CHU de Lille; Service de Neurologie (J.-C.A., J.-P.C.), CHU de Saint-Etienne; Service de Neurologie (M.A., G.R., C.T., M.-C.F.), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., G.R., C.T.), Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., G.R., C.T.), Université de Strasbourg; Centre de Référence SLA de Lyon (E.B.), Hôpital Neurologique P. Wertheimer, Hospices Civils de Lyon, CHU de Lyon, Bron; and Ecole Pratique des Hautes Etudes (G.S.), Paris Sciences Lettres Research University, France.

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http://dx.doi.org/10.1212/NXG.0000000000000374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927358PMC
December 2019

The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy.

Clin Neurophysiol 2018 11 13;129(11):2333-2340. Epub 2018 Sep 13.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry/Londonderry, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183121
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http://dx.doi.org/10.1016/j.clinph.2018.08.025DOI Listing
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

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

Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis.

Neurology 2018 01 6;90(1):e22-e30. Epub 2017 Dec 6.

From the Nuffield Department of Clinical Neurosciences (E.F., E.G., M.R.T.), University of Oxford, UK; Department of Neurology (P.O., P.S., F.V., J.H.W., P.W., A.C.L., M.O.), Ulm University Hospital, Germany; Department of Pathophysiology and Transplantation (F.V., V.S.), Università degli Studi di Milano; Department of Neurology-Stroke Unit and Laboratory of Neuroscience (F.V., C.M., V.S.), IRCCS Istituto Auxologico Italiano, Milan, Italy; Neurologic Clinic and Policlinic, Departments of Medicine, Clinical Research, and Biomedicine (C.B., J.K.), University Hospital and University of Basel, Switzerland; Department of Neurology (P.V.D.) and Laboratory of Molecular Neurobiomarker Research and Laboratory Medicine (K.P.), University Hospitals Leuven; KU Leuven-University of Leuven (P.V.D.); Department of Neurosciences (P.V.D.), VIB-Center for Brain & Disease Research, Leuven, Belgium; Department of Neurology (J.G., P.M., B.S.), Jena University Hospital, Germany; Department of Metabolic Biochemistry (C.J., F.L.) and Neurological Diseases Department (M.d.M.A., F.S.), Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France; Department of Neurology (S.K., S.P.), Hannover Medical School; Institute for Epidemiology and Medical Biometry (B.M.) Ulm University, Germany; Donders Institute for Brain, Cognition and Behaviour, Department of Neurology (J.R., M.M.V.), and Radboud Alzheimer Center, Department of Laboratory Medicine (M.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; and Department of Neurodegenerative Disease and Gerontopsychiatry/Neurology (P.W.), Bonn University Hospital, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000004761DOI Listing
January 2018

Reversal learning reveals cognitive deficits and altered prediction error encoding in the ventral striatum in Huntington's disease.

Brain Imaging Behav 2017 Dec;11(6):1862-1872

Department of Neuropsychiatry, Charité -Universitätsmedizin Berlin (Charité Campus Mitte), Charitéplatz 1, 10117, Berlin, Germany.

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http://dx.doi.org/10.1007/s11682-016-9660-0DOI Listing
December 2017

Outcome of gastrostomy in parkinsonism: A retrospective study.

Parkinsonism Relat Disord 2017 Oct 23;43:110-113. Epub 2017 Jun 23.

Assistance Publique Hôpitaux de Paris, Département de Neurologie, Hôpital Pitié-Salpêtrière, F-75013 Paris, France; Institut National de Santé et en Recherche Médicale U 1127 and Centre d'Investigation Clinique 1422, F-75013 Paris, France; Centre National de Recherche Scientifique U 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle Epinière, F-75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.06.012DOI Listing
October 2017

Involvement of peripheral III nerve in multiple sclerosis patient: Report of a new case and discussion of the underlying mechanism.

Mult Scler 2017 Apr 10;23(5):748-750. Epub 2017 Feb 10.

AP-HP, Service de Neuroradiologie Diagnostique et Fonctionnelle, Hôpital de la Pitié-Salpêtrière, Paris, France/Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Inria Paris-Rocquencourt, Paris, France.

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http://dx.doi.org/10.1177/1352458516687401DOI Listing
April 2017

Pure cerebellar ataxia linked to large C9orf72 repeat expansion.

Amyotroph Lateral Scler Frontotemporal Degener 2016 26;17(3-4):301-3. Epub 2015 Nov 26.

a Centre SLA , CHU Tours .

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http://dx.doi.org/10.3109/21678421.2015.1113298DOI Listing
January 2017

Cerebrospinal fluid metabolomics highlights dysregulation of energy metabolism in overt hepatic encephalopathy.

J Hepatol 2016 12 9;65(6):1120-1130. Epub 2016 Aug 9.

CEA, iBiTec-S, Service de Pharmacologie et d'Immunoanalyse, Laboratoire d'Etude du Métabolisme des Médicaments, MetaboHUB-Paris, Université Paris Saclay, 91191 Gif-sur-Yvette cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2016.07.046DOI Listing
December 2016

Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?

Neuromuscul Disord 2016 06 29;26(6):342-6. Epub 2016 Mar 29.

APHP, Hôpital Pitié-Salpêtrière, Département des Maladies du Système Nerveux, Centre référent SLA, 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, F-75013, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.03.004DOI Listing
June 2016

Cat Bite: An Unusual Cause of Foot Drop.

Am J Med 2016 May 1;129(5):e9-e10. Epub 2016 Feb 1.

Neurology Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre Inter-Régional de Coordination de la Maladie de Parkinson, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029343163008
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http://dx.doi.org/10.1016/j.amjmed.2016.01.018DOI Listing
May 2016

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

Response to the Letter to the Editor: "Radiotherapy of salivary glands as treatment of sialorrhea in patients with amyotrophic lateral sclerosis requiring non-invasive ventilation: what are we doing?".

J Neurol 2016 Mar 25;263(3):585. Epub 2016 Feb 25.

Département des Maladies du Système Nerveux, AP-HP, Groupe hospitalier Pitié-Salpêtrière, 47-83, Boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00415-016-8039-xDOI Listing
March 2016

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Brain 2015 Aug 10;138(Pt 8):2347-58. Epub 2015 Jun 10.

1 INSERM UMR 1161, Génétique et Physiopathologie des Maladies Cérébro-vasculaires, Paris, France 2 Université Paris Diderot, Sorbonne Paris Cité, UMR-S1161, Paris, France 5 AP-HP, Groupe Hospitalier Saint-Louis Lariboisière-Fernand-Widal, Service de Génétique Moléculaire Neurovasculaire, Centre de Référence des Maladies Vasculaires Rares du Cerveau et de l'Oeil (CERVCO), Paris, France

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http://dx.doi.org/10.1093/brain/awv155DOI Listing
August 2015

Radiotherapy treatment of sialorrhea in patients with amyotrophic lateral sclerosis requiring non-invasive ventilation.

J Neurol 2015 Aug 15;262(8):1981-3. Epub 2015 Jul 15.

Groupe hospitalier Pitié-Salpêtrière, Département des Maladies du Système Nerveux, AP-HP, 75013, Paris, France.

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http://link.springer.com/content/pdf/10.1007/s00415-015-7848
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http://link.springer.com/10.1007/s00415-015-7848-7
Publisher Site
http://dx.doi.org/10.1007/s00415-015-7848-7DOI Listing
August 2015