Alexandra Durr

Alexandra Durr

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Alexandra Durr

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Predictors of Left Ventricular Dysfunction in Friedreich's Ataxia in a 16-Year Observational Study.

Am J Cardiovasc Drugs 2019 Oct 25. Epub 2019 Oct 25.

Cardiology Department, AP-HP, Pitié-Salpêtrière University Hospital, Sorbonne Université, Paris, France.

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http://dx.doi.org/10.1007/s40256-019-00375-zDOI Listing
October 2019

Oral mobility reflects rate of progression in advanced Friedreich's ataxia.

Ann Clin Transl Neurol 2019 Sep 25;6(9):1888-1892. Epub 2019 Aug 25.

Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, Hôpital Universitaire Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/acn3.50879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764486PMC
September 2019

A neuroscientific approach to increase gender equality.

Nat Hum Behav 2019 Sep 30. Epub 2019 Sep 30.

Institut du Cerveau et de la Moelle Épinière (ICM), Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Paris, France.

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http://dx.doi.org/10.1038/s41562-019-0755-7DOI Listing
September 2019

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

Neurology 2019 Jun 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

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.

F1000Res 2018 12;7. Epub 2018 Nov 12.

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne University, Paris, 75013, France.

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https://f1000research.com/articles/7-1781/v1
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http://dx.doi.org/10.12688/f1000research.15788.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234732PMC
March 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

Reverse pre-symptomatic testing for Huntington disease: double disclosure when 25% at-risk children reveal the genetic status to their parent.

Eur J Hum Genet 2019 01 11;27(1):22-27. Epub 2018 Sep 11.

APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1038/s41431-018-0255-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303253PMC
January 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

Contemporary Dance Practice Improves Motor Function and Body Representation in Huntington's Disease: A Pilot Study.

J Huntingtons Dis 2019 ;8(1):97-110

Brain and Spine Institute (ICM), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.3233/JHD-180315DOI Listing
January 2019

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Brain 2018 12;141(12):3331-3342

Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy285DOI Listing
December 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

Executive impairment is associated with unawareness of neuropsychiatric symptoms in premanifest and early Huntington's disease.

Neuropsychology 2018 Nov 13;32(8):958-965. Epub 2018 Sep 13.

Monash Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University.

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http://dx.doi.org/10.1037/neu0000479DOI Listing
November 2018

Altered Intracortical T-Weighted/T-Weighted Ratio Signal in Huntington's Disease.

Front Neurosci 2018 5;12:805. Epub 2018 Nov 5.

Department of Psychology, Neuroscience and Behaviour, McMaster University, Hamilton, ON, Canada.

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http://dx.doi.org/10.3389/fnins.2018.00805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230564PMC
November 2018

In vivo characterization of white matter pathology in premanifest huntington's disease.

Ann Neurol 2018 10 15;84(4):497-504. Epub 2018 Sep 15.

Department of Computer Science and Centre for Medical Image Computing, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.25309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221120PMC
October 2018

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Neurology 2018 09 10;91(10):e917-e930. Epub 2018 Aug 10.

From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000006121DOI Listing
September 2018

Hereditary ataxias and paraparesias: clinical and genetic update.

Curr Opin Neurol 2018 08;31(4):462-471

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

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http://dx.doi.org/10.1097/WCO.0000000000000585DOI Listing
August 2018

The genetic nomenclature of recessive cerebellar ataxias.

Mov Disord 2018 07 14;33(7):1056-1076. Epub 2018 May 14.

Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mds.27415DOI Listing
July 2018

Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia.

Clin Neurophysiol 2018 06 27;129(6):1121-1129. Epub 2018 Mar 27.

Laboratory of Neurosensory Biophysics, UMR INSERM 1107, University Clermont Auvergne, Clermont-Ferrand, France; Centre Jean Perrin, Clermont-Ferrand, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.03.005DOI Listing
June 2018

Reply: Updated frequency analysis of spinocerebellar ataxia in China.

Brain 2018 04;141(4):e23

Brain and Spine Institute (ICM), Sorbonne Université, Inserm U1127, CNRS UMR 7225, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1093/brain/awy018DOI Listing
April 2018

Brain Regions Showing White Matter Loss in Huntington's Disease Are Enriched for Synaptic and Metabolic Genes.

Biol Psychiatry 2018 03 26;83(5):456-465. Epub 2017 Oct 26.

Huntington's Disease Centre, Department of Neurodegenerative Disease, Queen Square, London, United Kingdom; National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2017.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803509PMC
March 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

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Clin Neurol Neurosurg 2018 03 30;166:1-3. Epub 2018 Jan 30.

CHU Bordeaux, Service de Génétique Médicale, F-33000 Bordeaux, France; Univ. Bordeaux, INSERM 1211, F-33000 Bordeaux, France.

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http://dx.doi.org/10.1016/j.clineuro.2018.01.013DOI Listing
March 2018

Neurofilament light protein in blood predicts regional atrophy in Huntington disease.

Neurology 2018 02 24;90(8):e717-e723. Epub 2018 Jan 24.

From the Huntington's Disease Research Centre (E.B.J., L.M.B., S.G., F.B.R., S.J.T., R.I.S., E.J.W.), UCL Institute of Neurology, London, UK; Clinical Neurochemistry Laboratory (K.B., H.Z.), Sahlgrenska University Hospital, Mölndal, Sweden; Institut du Cerveau et de la Moelle épinière (A.D.), Sorbonne Universités, UPMC University Paris 06, UMRS 1127, INSERM, U 1127, CNRS, UMR 7225; APHP (A.D.), Genetics Department, Pitié-Salpêtrière University Hospital, Paris, France; Centre for Molecular Medicine and Therapeutics (B.R.L.), University of British Columbia, Vancouver, BC, Canada; Department of Neurology (R.A.R.), Leiden University, the Netherlands; Department of Molecular Neuroscience (H.Z.), UCL Institute of Neurology, Queen Square, London, UK; Department of Psychiatry and Neurochemistry (H.Z.), Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden; and UK Dementia Research Institute (H.Z.), London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5818166PMC
February 2018

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Neurol Genet 2018 Feb 19;4(1):e209. Epub 2018 Jan 19.

Institute of Human Genetics (N.M.-F., E.J., S.H., S.S., J.M., M.K., M.R., L.T.-B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany; Institute for Zoology, Developmental Biology (H.L., M.H.), Institute of Biochemistry (C.P.), University of Cologne, Germany; Institut du Cerveau et de la Moelle épinière (M.C., A.B., A.D., G.S.), INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS 1127, France; Ecole Pratique des Hautes Etudes (M.C., G.S.), PSL Research University, Paris, France; Laboratory of Molecular and Cellular Neuroscience (M.R.), The Rockefeller University, New York, NY; Laboratory of Neurogenetics (A.S.), National Institute on Aging, National Institutes of Health, Bethesda, MD; John P. Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, FL; and APHP (A.B., A.D., G.S.), Hôpital de la Pitié-Salpêtrière, Centre de réference de neurogénétique, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775069PMC
February 2018

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

Survival End Points for Huntington Disease Trials Prior to a Motor Diagnosis.

JAMA Neurol 2017 11;74(11):1352-1360

Huntington's Disease Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2017.2107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710578PMC
November 2017

Recommendations for the Use of Automated Gray Matter Segmentation Tools: Evidence from Huntington's Disease.

Front Neurol 2017 10;8:519. Epub 2017 Oct 10.

Huntington's Disease Centre, UCL Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.3389/fneur.2017.00519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641297PMC
October 2017

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Lancet Neurol 2017 09 20;16(9):701-711. Epub 2017 Jun 20.

UCL Huntington's Disease Centre, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30161-8DOI Listing
September 2017

A liminal stage after predictive testing for Huntington disease.

J Med Genet 2017 08 13;54(8):511-520. Epub 2017 Jan 13.

Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104199DOI Listing
August 2017

SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

Parkinsonism Relat Disord 2017 05 11;38:80-84. Epub 2017 Feb 11.

Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.02.012DOI Listing
May 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

2016 in Review and Message from the Editors to our Reviewers.

Neurol Genet 2017 Feb 15;3(1):e132. Epub 2017 Feb 15.

Department of Neurology (S.M.P., N.E.J.), University of Utah, Salt Lake City; Hôpital de la Salpêtrière (A.D.), Paris, France; Hôpital Erasme (M.P.), Université Libre de Bruxelles, Belgium; University of Chicago Medical Center (R.P.R.); and University of Miami (J.M.V.), FL.

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http://dx.doi.org/10.1212/NXG.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314733PMC
February 2017

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Lancet Neurol 2016 Dec;15(13):1346-1354

Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30287-3DOI Listing
December 2016

Prenatal testing in Huntington disease: after the test, choices recommence.

Eur J Hum Genet 2016 11 15;24(11):1535-1540. Epub 2016 Jun 15.

ICM (Institut du Cerveau et de la Moelle épinière), INSERM U1127, CNRS UMR7225, Sorbonne Universities - UPMC University Paris VI UMR_S1127, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2016.59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110058PMC
November 2016

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

JAMA Neurol 2016 09;73(9):1105-14

Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France3Institut du Cerveau et de la Moelle Epinière, Paris, France4Institut National de la Santé et de la Récherche Médicale Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Sorbonne Universités, Université Pierre et Marie Curie University Paris 06 Unité Mixte de Recherche S1127, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2016.2215DOI Listing
September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Neuropsychiatry and White Matter Microstructure in Huntington's Disease.

J Huntingtons Dis 2015 ;4(3):239-49

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.3233/JHD-150160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684097PMC
July 2016

Movement disorders: Are umbrella terms for rare genetic diseases still useful?

Authors:
Alexandra Durr

Nat Rev Neurol 2016 06 15;12(6):321-2. Epub 2016 Apr 15.

ICM Research Institute at the Salpêtrière University APHP Hospital, 47 boulevard de l'Hôpital, 75651 Paris CEDEX 13, France.

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http://www.nature.com/articles/nrneurol.2016.50
Publisher Site
http://dx.doi.org/10.1038/nrneurol.2016.50DOI Listing
June 2016

Deep brain stimulation of the internal pallidum in Huntington's disease patients: clinical outcome and neuronal firing patterns.

J Neurol 2016 Feb 14;263(2):290-298. Epub 2015 Nov 14.

Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00415-015-7968-0DOI Listing
February 2016

Large-scale brain network abnormalities in Huntington's disease revealed by structural covariance.

Hum Brain Mapp 2016 Jan 10;37(1):67-80. Epub 2015 Oct 10.

Department of Psychiatry and Psychotherapy, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/hbm.23014DOI Listing
January 2016

Detection of Motor Changes in Huntington's Disease Using Dynamic Causal Modeling.

Front Hum Neurosci 2015 25;9:634. Epub 2015 Nov 25.

Department of Psychiatry and Psychotherapy, University Medical Center Freiburg Freiburg, Germany ; Freiburg Brain Imaging Center, University Medical Center Freiburg Freiburg, Germany ; Department of Neurology, University Medical Center Freiburg Freiburg, Germany.

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http://dx.doi.org/10.3389/fnhum.2015.00634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658414PMC
December 2015

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

JAMA Neurol 2015 Nov;72(11):1334-41

Department of Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France3Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, Universi.

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http://dx.doi.org/10.1001/jamaneurol.2015.1855DOI Listing
November 2015

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Am J Hum Genet 2015 Nov 8;97(5):726-37. Epub 2015 Oct 8.

INSERM U 1127, 75013 Paris, France; Centre National de la Recherche Scientifique UMR 7225, 75013 Paris, France; UMRS 1127, Université Pierre et Marie Curie (Paris 06), Sorbonne Universités, 75013 Paris, France; Institut du Cerveau et de la Moelle Épinière, 75013 Paris, France; Ecole Pratique des Hautes Etudes, 75014 Paris, France; Centre de Référence de Neurogénétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667105PMC
November 2015