Giovanni Stevanin

Giovanni Stevanin

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Giovanni Stevanin

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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

Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies.

Expert Rev Neurother 2019 May 30;19(5):409-415. Epub 2019 Apr 30.

b Basic to Translational Neurogenetics team , Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Université UMR_S1127 , Paris , France.

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https://www.tandfonline.com/doi/full/10.1080/14737175.2019.1
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http://dx.doi.org/10.1080/14737175.2019.1608824DOI Listing
May 2019

Update on the Genetics of Spastic Paraplegias.

Curr Neurol Neurosci Rep 2019 Feb 28;19(4):18. Epub 2019 Feb 28.

Institut du Cerveau et de la Moelle épinière, Sorbonne Université UMR_S1127, INSERM Unit 1127, CNRS UMR7225, 75013, Paris, France.

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http://link.springer.com/10.1007/s11910-019-0930-2
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http://dx.doi.org/10.1007/s11910-019-0930-2DOI Listing
February 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

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic.

Acta Neurol Scand 2018 Nov 10;138(5):425-431. Epub 2018 Jul 10.

Laboratory of Neurogenetics, Parkinson's Disease and Cerebrovascular Disease, University Hospital Habib Bourguiba, Sfax, Tunisia.

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http://dx.doi.org/10.1111/ane.12996DOI Listing
November 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

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

homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Neurol Genet 2018 Apr 21;4(2):e223. Epub 2018 Mar 21.

Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863690PMC
April 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

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

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Neurobiol Dis 2017 Jun 22;102:21-37. Epub 2017 Feb 22.

Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Inserm, U1127, F-75013 Paris, France; CNRS, UMR 7225, F-75013 Paris, France; 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.nbd.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391847PMC
June 2017

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

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.

Mol Neurodegener 2016 07 28;11(1):58. Epub 2016 Jul 28.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités UPMC, Univ Paris 06 UMR_S 1127, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital, 75013, Paris, France.

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http://dx.doi.org/10.1186/s13024-016-0123-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964261PMC
July 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Brain 2016 06 25;139(Pt 6):1723-34. Epub 2016 Mar 25.

1 Ecole Pratique des Hautes Etudes, EPHE, PSL université, laboratoire de neurogénétique, F-75013, Paris, France 2 Inserm, U1127, F-75013, Paris, France 3 CNRS, UMR7225, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière - ICM, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/aww061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621PMC
June 2016

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

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

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.

J Neurol 2015 Oct 11;262(10):2382-95. Epub 2015 Apr 11.

INSERM, U 1127, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00415-015-7725-4DOI Listing
October 2015

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Am J Med Genet B Neuropsychiatr Genet 2015 Oct 16;168(7):573-85. Epub 2015 Jun 16.

Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.b.32332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565761PMC
October 2015

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.

J Neurol Neurosurg Psychiatry 2015 Sep 4;86(9):986-95. Epub 2014 Dec 4.

Sorbonne Universités, Université Pierre et Marie Curie - Paris 06, UMR_S1127, Paris, France Inserm, U1127, Paris, France Cnrs, UMR 7225, Paris, France AP-HP, Groupe Hospitalier Pitié-Salpêtriére, Departement of Genetics and Cytogenetics, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2014-309153DOI 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

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.

Hum Genet 2015 Jun 11;134(6):511-38. Epub 2015 Mar 11.

INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Univ Paris 06 UMR_S1127, EPHE, Institut du Cerveau et de la Moelle épinière, CHU Pitié-Salpêtrière, 47 bd de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1007/s00439-015-1536-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424374PMC
June 2015

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Neurology 2015 Apr 3;84(17):1751-9. Epub 2015 Apr 3.

From Institut du Cerveau et de la Moelle épinière (M.C., A.B., G.S., A.D.), ICM, Paris; CNRS (M.C., A.B., G.S., A.D.), UMR 7225, Paris; Sorbonne Universités (M.C., A.B., G.S., A.D.), UPMC Univ Paris 06, UMRS_1127, Paris; INSERM (M.C., E.M., A.B., G.S., A.D.), U 1127, Paris, France; Laboratory of Human Molecular Genetics (M.C.), de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Laboratoire de Neurogénétique (M.C., G.S.), Ecole Pratique des Hautes Etudes, ICM, GHU Pitié-Salpêtrière, Paris; Centre de Référence Malformations et Maladies Congénitales du Cervelet (L.B., D.R., S.C.-B., C.R., A.A.), Paris-Lyon-Lille; INSERM U1141 (L.B., D.R.), Paris; APHP (L.B., S.C.-B.), Armand-Trousseau Hospital, Department of Genetics, Paris, France; Service de Neurologie (M.A.-B.), CHU Bab el Oued, Alger, Algeria; APHP (D.R., A.A.), Armand-Trousseau Hospital, Department of Neuropediatrics, UPMC Univ Paris 06; Hospices Civils de Lyon (C.R.), HFME, Service de Neuropédiatrie, Bron; Centre Hospitalier du Pays d'Aix (M.-A.C.), Service de Pédiatrie, Aix en Provence; APHM (M.M.), Service de neurologie pédiatrique, Hôpital de la Timone, Marseille; Service de Génétique (A.T.), Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours; Centre National de Génotypage (D.B., V.M., J.-F.D.), Institut de Génomique, CEA, Evry; APHP (A.B., D.H., A.D.), Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris; Centre de Référence Déficiences Intellectuelles de causes rares (D.H.), Paris; and Groupe de Recherche Clinique déficiences intellectuelles (D.H.), UPMC Univ Paris 06, France.

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http://dx.doi.org/10.1212/WNL.0000000000001524DOI Listing
April 2015

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Mov Disord 2015 Feb 27;30(2):262-6. Epub 2014 Dec 27.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila Weston Institute of Neurological Studies, Institute of Neurology, University College London, Queen Square, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4318767PMC
http://dx.doi.org/10.1002/mds.26059DOI Listing
February 2015

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Neurology 2015 Feb 21;84(7):659-67. Epub 2015 Jan 21.

From the Department of Neurology and Agnes Ginges Center for Human Neurogenetics (A.L., P.P.), Department of Genetics and Metabolic Diseases (B.-E.Z., M.A., L.C., R.S., I.L., V.M.), Neuro-Ophthalmology Center, Department of Ophthalmology (S.D.), and Department of Radiology (J.M.G.), Hebrew University-Hadassah Medical Center, Jerusalem, Israel; Institut für Zytobiologie und Zytopathologie (C.S., R.L.), Philipps-Universität Marburg, Germany; Laboratoire de Neurogénétique (G.S., M.G.), Ecole Pratique des Hautes Etudes-heSam Universite, Institut du Cerveau et de la Moelle épinière, Paris; Inserm U1127 (G.S., M.G., E.M., A.B.), CNRS UMR7225, Sorbonne Universites, UPMC Univ Paris 06 UMR_1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris; APHP (G.S., A.B.), Fédération de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris; Institut du Cerveau et de la Moelle épinière (G.S., E.M., A.B.), Genotyping and Sequencing Facility, Paris, France; Department of Neurology (A.M.), Shaare Zedek Medical Center, Jerusalem, Israel; Max-Planck-Institut für terrestrische Mikrobiologie (R.L.), Marburg; and LOEWE Zentrum für Synthetische Mikrobiologie SynMikro (R.L.), Marburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001270DOI Listing
February 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.

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

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

J Invest Dermatol 2015 Jan 22;135(1):304-308. Epub 2014 Jul 22.

Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, Singapore, Singapore; Department of Paediatrics, National University of Singapore, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4269804PMC
January 2015

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

Orphanet J Rare Dis 2014 Nov 26;9:174. Epub 2014 Nov 26.

Service de neurologie pédiatrique et des maladies métaboliques, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris, 75019, Paris, France.

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http://dx.doi.org/10.1186/s13023-014-0174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302636PMC
November 2014

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Brain 2014 Oct 28;137(Pt 10):2657-63. Epub 2014 Jul 28.

2 Institut National de la Santé et de la Recherche Médicale, INSERM U837, and Université de Lille Nord de France, F-59045, Lille, France 4 Pôle de Biochimie et Biologie moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille, F-59037, Lille, France

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http://dx.doi.org/10.1093/brain/awu202DOI Listing
October 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 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, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Neurology 2014 Sep 6;83(11):990-5. Epub 2014 Aug 6.

From the Institut du Cerveau et de la Moelle épinière (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurogénétique, ICM (G.S.), HéSam Université, GHU Pitié-Salpêtrière, F-75013, Paris; Fédération des Maladies du Système Nerveux, Centre de référence maladies rares SLA (F.S., V.M.), Département de Neuropathologie (D.S.), Department of Neurology (A.-M.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire (E.L.), Département de Génétique et Cytogénétique (A.B.), and Centre de référence Démences Rares (I.L.), AP-HP, Hôpital Pitié-Salpêtrière, F-75013, Paris; Inserm U1079 (D.H.), Rouen; Centre mémoire (F.P.), Université Lille Nord de France, EA1046, CHU, Lille; Neuroépidémiologie Tropicale (P.C.), Université de Limoges INSERM UMR1094, Limoges; Service de Neurologie et Pathologie du Mouvement (V.D.-B.), Hôpital Roger Salengro, CHRU Lille; and Service de neurologie (C.T.), Hôpital de Hautepierre, CHU de Strasbourg, 1 Avenue Molière, Strasbourg, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162303PMC
September 2014

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

J Med Genet 2014 Feb 6;51(2):137-42. Epub 2013 Dec 6.

Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2013-102012DOI Listing
February 2014

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Am J Hum Genet 2014 Feb 2;94(2):268-77. Epub 2014 Jan 2.

Université Pierre and Marie Curie - Paris VI, Unité Mixte de Recherche S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité 975, 75013 Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7225, 75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928657PMC
February 2014

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Neurogenetics 2013 Nov 21;14(3-4):257-8. Epub 2013 Aug 21.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/s10048-013-0370-0DOI Listing
November 2013

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

J Neurol 2013 Jul 8;260(7):1807-12. Epub 2013 Mar 8.

Department of Genetics, University of Groningen, University Medical Center Groningen, Oostersingel Entrance 47, P.O. Box 30 001, 9700 RB Groningen, The Netherlands.

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http://link.springer.com/10.1007/s00415-013-6882-6
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July 2013

Spinocerebellar ataxia 13 and 25.

Handb Clin Neurol 2012 ;103:549-53

Université Pierre et Marie Curie-Paris 6, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, UMR-S975, Paris, France.

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December 2011

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.

Mol Cell Neurosci 2011 Jul 27;47(3):191-202. Epub 2011 Apr 27.

INSERM, U975, Université Pierre et Marie Curie-Paris 6, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CR-icm), GHU Pitié-Salpêtrière, CNRS, Paris, France.

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http://dx.doi.org/10.1016/j.mcn.2011.04.004DOI Listing
July 2011

Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.

Ophthalmology 2011 Mar 29;118(3):564-73. Epub 2010 Oct 29.

Service d'Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHRU de Lille, Lille Cedex, France.

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http://dx.doi.org/10.1016/j.ophtha.2010.07.024DOI Listing
March 2011

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.

Amyotroph Lateral Scler 2011 Mar 30;12(2):148-9. Epub 2010 Dec 30.

UCL Institute of Neurology, University College, London, UK.

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March 2011