Publications by authors named "Andreas Puschmann"

54Publications

Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?

Parkinsonism Relat Disord 2020 Oct 12:138-140. Epub 2020 Oct 12.

Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address:

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October 2020

Abstracts of the IAPRD XXV World Congress on Parkinson's Disease and Related Disorders, 2020. Congress theme: Diagnosing and treating movement disorders in the era of personalized medicine.

Parkinsonism Relat Disord 2020 Jul 27:e1-e2. Epub 2020 Jul 27.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address:

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July 2020

New generation genetic testing entering the clinic.

Parkinsonism Relat Disord 2020 04 2;73:72-84. Epub 2020 Mar 2.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address:

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April 2020

Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?

Neurol Neurochir Pol 2020 ;54(1):3-5

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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March 2020

Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia.

Parkinsonism Relat Disord 2019 12 29;69:79-84. Epub 2019 Oct 29.

Lund University, Skane University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden. Electronic address:

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December 2019

Tidig diagnos och behandling med gallsyra avgörande vid cerebrotendinös xantomatos.

Lakartidningen 2018 09 20;115. Epub 2018 Sep 20.

Karolinska Institutet - Laboratoriemedicin Huddinge, Sweden Karolinska Institutet - Laboratoriemedicin Huddinge, Sweden.

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September 2018

Will FTLD-tau work for all when FTDP-17 retires?

Brain 2018 08;141(8):e62

Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Sweden.

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August 2018

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.

Leukemia 2018 05 25;32(5):1106-1115. Epub 2018 Feb 25.

Department of Hematology, University Hospital Linköping, Linköping, Sweden.

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May 2018

Ataxia-pancytopenia syndrome with mutations.

Neurol Genet 2017 Oct 24;3(5):e183. Epub 2017 Aug 24.

Sections of Neurology (S.G., C.N., A.P.), Pediatric Neurology (K.N.), Ophthalmology (S.A., U.K.), Pediatric Oncolocgy and Hematology (D.T., U.T., J.D.), Otorhinolaryngology (M.K.), and Hematology (L.N.), Department of Clinical Sciences, Skåne University Hospital, Lund University, Sweden; Department of Children and Adolescents (J.K.-E., J.U.), Department of Diagnostic Radiology (M.S.-P.), Department of Neurology (J.K.), and Department of Clinical Genetics, (E.R.), Oulu University Hospital; PEDEGO Research Unit (J.K.-E., E.R., J.U.), Medical Research Center Oulu (J.K.-E., M.S.-P., E.R., J.K., J.U.), Biocenter Oulu (J.K.-E., J.U.), and Research Unit of Clinical Neuroscience (J.K.), University of Oulu, Finland; Department of Hematology (J.C.), Linköping University Hospital and IKE Linköping University (J.C.), Sweden; and Division of Molecular Hematology (J.D.), Institution for Laboratory Medicine, Lund University, Sweden.

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October 2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Curr Neurol Neurosci Rep 2017 Sep;17(9):66

Lund University, Skåne University Hospital, Department of Clinical Sciences Lund, Neurology, Lund, Sweden.

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September 2017

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins.

Mov Disord 2017 Jul 1;32(7):1016-1024. Epub 2017 Jun 1.

Pacific Parkinson's Research Centre, Division of Neurology and Djavad Mowafaghian Centre for Brain Health, University of British Columbia & Vancouver Coastal Health, Vancouver, BC, Canada.

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July 2017

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers.

Brain 2016 09 29;139(Pt 9):2372-9. Epub 2016 Jun 29.

3 Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Sweden 9 Memory Clinic, Skåne University Hospital, Malmö, Sweden

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September 2016

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

Neurology 2015 Dec 11;85(23):2016-25. Epub 2015 Nov 11.

From the Department of Neuroscience (K.O., S.K., F.C.F., M.A., C.L., O.L.-B., E.L.M.-L., A.I.S.-O., R.L.W., W.S., D.W.D., O.A.R.), the Division of Biomedical Statistics and Informatics (M.G.H.), and the Department of Neurology (A.J.S., R.J.U., N.R.G.-R., Z.K.W.), Mayo Clinic, Jacksonville, FL; the Department of Neurology (K.O., M.A., K.N., M.F., N.H.), Juntendo University School of Medicine, Tokyo, Japan; the Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway, and Institute of Biomolecular & Biomedical Research, University College Dublin, Ireland; the Department of Neurology (J.S., G.O., M.R.), Medical University of Silesia, Katowice; the Department of Neurology (A.K.-W.), Jagiellonian University, Krakow; the Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw; the Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland; the Departments of Clinical Sciences and Neurology (A.P.), Lund University; the Department of Neurology (A.P.), Skåne University Hospital, Sweden; the Research Institute for Diseases of Old Age, Graduate School of Medicine (M.F., N.H.), Juntendo University, Tokyo, Japan; the Departments of Pathology and Laboratory Medicine (J.E.P.) and Neurology (R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; the School of Medicine and Medical Science (O.A.R.), University College Dublin, Ireland; and Mayo Graduate School (O.A.R.), Neurobiology of Disease, Jacksonville, FL.

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December 2015

Autosomal dominant Parkinson's disease caused by SNCA duplications.

Parkinsonism Relat Disord 2016 Jan 3;22 Suppl 1:S1-6. Epub 2015 Sep 3.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

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January 2016

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies.

Neurology 2015 Nov 2;85(19):1680-6. Epub 2015 Sep 2.

From the Departments of Neuroscience (C.L., K.O., O.L.-B., A.I.S.-O., R.L.W., S.R., M.E.M., P.J.M., R.R., N.E.-T., D.W.D., O.A.R.), Neurology (S.F., N.E.-T., N.R.G.-R., R.J.U., Z.K.W.), and Psychiatry and Psychology (T.J.F.), Division of Biomedical Statistics and Informatics (M.G.H.), and Mayo Graduate School (P.J.M., O.A.R.), Mayo Clinic, Jacksonville, FL; Dublin Neurological Institute at the Mater Misericordiae University Hospital (A.M., T.L.), Conway; Institute of Biomolecular & Biomedical Research (A.M., T.L.), University College Dublin, Ireland; Department of Clinical Sciences (A.P.), Lund University, and Department of Neurology, Skåne University Hospital, Sweden; Department of Neurology (J.S., G.O.), Medical University of Silesia, Katowice; Department of Neurology (M.R., A.K.-W.), Jagiellonian University, Krakow; Department of Neurodegenerative Disorders (M.B.), Medical Research Centre, Polish Academy of Sciences, Warsaw; Department of Neurology (K.C.), Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland; Lviv Regional Clinical Hospital (Y.S.), Ukraine; Department of Neurology and School of Medicine (I.R.), Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Departments of Neurology (A.H., J.E.A., B.F.B., R.C.P.) and Pathology and Laboratory Medicine (J.E.P.), Mayo Clinic, Rochester, MN; Department of Neurology (D.M.M.), NorthShore University Health System, Evanston, IL; and Department of Neurology (C.H.A.), Mayo Clinic, Scottsdale, AZ.

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November 2015

CHCHD2 and Parkinson's disease.

Lancet Neurol 2015 Jul;14(7):679

Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.

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July 2015

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

Parkinsonism Relat Disord 2014 Aug 26;20(8):919-23. Epub 2014 Apr 26.

Department of Neurology, Skåne University Hospital, Lund, Sweden; Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden. Electronic address:

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August 2014

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?

Parkinsonism Relat Disord 2014 Jul 13;20(7):748-54. Epub 2014 Apr 13.

Division of Neurology, Department of Clinical Sciences, Lund University, Sweden; Department for Neurology, Skåne University Hospital, Sweden. Electronic address:

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July 2014

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Parkinsonism Relat Disord 2013 Apr 23;19(4):407-15. Epub 2013 Feb 23.

Dept. for Neurology, Lund University and Skåne University Hospital, Getingevägen 4, 22185 Lund, Sweden.

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April 2013

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Hum Mol Genet 2013 Jun 27;22(12):2510-9. Epub 2013 Feb 27.

Department of Neurology, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

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June 2013

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

BMC Neurol 2012 Sep 18;12:93. Epub 2012 Sep 18.

Department of Neurology, Vanderbilt University, Nashville, TN, USA.

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September 2012

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Parkinsonism Relat Disord 2012 Jun 28;18(5):414-25. Epub 2012 Feb 28.

Department of Neurology, University of Tennessee Health Science Center, 855 Monroe Avenue, Link Building-Suite 415, Memphis, TN 38163, USA.

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June 2012

Synucleinopathies from bench to bedside.

Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S24-7

Department for Geriatric Psychiatry, Lund University, Sweden.

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January 2012

An African-American family with dystonia.

Parkinsonism Relat Disord 2011 Aug 20;17(7):547-50. Epub 2011 May 20.

Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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August 2011

Human leukocyte antigen variation and Parkinson's disease.

Parkinsonism Relat Disord 2011 Jun 11;17(5):376-8. Epub 2011 Apr 11.

Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA.

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June 2011

Diagnosis and treatment of common forms of tremor.

Semin Neurol 2011 Feb 14;31(1):65-77. Epub 2011 Feb 14.

Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.

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February 2011

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

Parkinsonism Relat Disord 2009 Jun 27;15(5):390-2. Epub 2008 Sep 27.

Department of Neurology, Lund University Hospital, Sweden.

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June 2009

Unverricht-Lundborg disease-a misnomer?

Mov Disord 2009 Mar;24(4):629-30; author reply 630

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March 2009

TNF-alpha induces apoptosis of parietal cells.

Biochem Pharmacol 2003 May;65(10):1755-60

Second Department of Medicine, Technical University of Munich, Ismaningerstr. 22, D-81675, Munich, Germany.

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May 2003