Publications by authors named "Martin Paucar"

46Publications

Heterozygous variants in : Beyond congenital mirror movements.

Neurol Genet 2020 Dec 20;6(6):e526. Epub 2020 Oct 20.

Department of Clinical Neuroscience (S.T., T.G., M.P.), Karolinska Institutet; Department of Neurology (S.T., M.P.), Karolinska University Hospital; Department of Neurophysiology (M.I.), Karolinska University Hospital; Department of Pediatric Neurology (M.L.), Astrid Lindgren's Hospital; Department of Clinical Genetics (A.N., B.T., G.B.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (A.N., B.T., G.B., D.N.), Karolinska Institutet; and Department of Neuroradiology (T.G.), Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670573PMC
December 2020

Hyperkinesias and Echolalia in Primary Familial Brain Calcification.

Ann Neurol 2020 Nov 10. Epub 2020 Nov 10.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ana.25955DOI Listing
November 2020

A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS.

Mov Disord 2020 Oct 15. Epub 2020 Oct 15.

Department of Clinical Neuroscience (CNS), Neuro Svenningsson, J5:20 Bioclinicum, Karolinska Universitetssjukhuset, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mds.28334DOI Listing
October 2020

variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes.

Neurol Genet 2020 Aug 7;6(4):e474. Epub 2020 Jul 7.

Department of Neurology (M.P., E.W., P.S.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., T.G., E.W., P.S.), Karolinska Institutet; Department of Neuroradiology (T.G.), Karolinska University Hospital; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet; Department of Clinical Genetics (K.L.-R.); Medical Radiation Physics and Nuclear Medicine (S.P., L.N.), Karolinska University Hospital; and Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357413PMC
August 2020

Phenotypic variability in chorea-acanthocytosis associated with novel mutations.

Neurol Genet 2020 Jun 27;6(3):e426. Epub 2020 Apr 27.

Department of Neurology (V.N.), Uppsala University Hospital; Department of Neurology (A.S.), Västerås Hospital, Sweden; Department of Neurology (D.S.), Gävle Hospital; Department of Neurology (B.L.), University Hospital in Örebro; Department of Neurology (J.W., M.P.), Karolinska University Hospital, Stockholm, Sweden; Department of Neurology (G.M.), Ludwig-Maximilians-Universität München, Munich, Germany; Department of Clinical Neuroscience (T.G., M.P.), Karolinska Institutet, Stockholm; Department of Radiology (T.G., A.T.), Karolinska University Hospital, Stockholm; Department of Diagnostic Medical Physics (L.N.), Karolinska University Hospital Solna, Stockholm; Division of Clinical Geriatrics (L.N.), Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm; Department of Surgical Sciences (T.D.), Section for Nuclear Medicine and PET, Uppsala University Hospital; Department of Medical Radiation Physics and Nuclear Medicine (I.S.), Karolinska University Hospital, Stockholm; and Department of Immunology, Genetics and Pathology (N.D.), Science for Life Laboratory, Uppsala University, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217656PMC
June 2020

[Orthostatic tremor - a disregarded diagnosis].

Lakartidningen 2020 05 20;117. Epub 2020 May 20.

professor, överläkare, Karolinska institutet; Centrum för neurologi, Akademiskt specialistcentrum, Stockholm.

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May 2020

[Recent advances in Huntington's disease].

Lakartidningen 2020 03 9;117. Epub 2020 Mar 9.

Karolinska Universitetssjukhuset - Tema Neuro Stockholm, Sweden Karolinska Universitetssjukhuset - Tema Neuro Stockholm, Sweden.

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March 2020

[Ataxia - a group of heterogeneous diseases].

Lakartidningen 2020 03 9;117. Epub 2020 Mar 9.

Karolinska Hospital - Tema Neuro och Neurofysiologi Stockholm, Sweden Karolinska Hospital - Tema Neuro och Neurofysiologi Stockholm, Sweden.

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March 2020

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.

Tremor Other Hyperkinet Mov (N Y) 2019 10;9. Epub 2019 Oct 10.

Department of Neurology, Karolinska University Hospital, Stockholm, SE.

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http://dx.doi.org/10.7916/tohm.v0.708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790008PMC
September 2020

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series.

Neurol Genet 2019 Aug 12;5(4):e344. Epub 2019 Jun 12.

Department of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659133PMC
August 2019

Involuntary movements, vocalizations and cognitive decline.

Parkinsonism Relat Disord 2019 May 29. Epub 2019 May 29.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.05.029DOI Listing
May 2019

Clinical Reasoning: Leg weakness and stiffness at the emergency room.

Neurology 2019 02;92(6):e622-e625

From the Departments of Neurology (K.a.E., G.S., M.P.), Infectious Diseases (C.L.), and Neurophysiology (G.S.), Karolinska University Hospital, Solna; Department of Clinical Neuroscience (K.a.E., G.S., M.P.), Karolinska Institutet, Stockholm; and Department of Microbiology (S.A.), University Hospital in Örebro, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000006885DOI Listing
February 2019

Variant ataxia-telangiectasia with prominent camptocormia.

Parkinsonism Relat Disord 2019 05 17;62:253-255. Epub 2018 Dec 17.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183055
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http://dx.doi.org/10.1016/j.parkreldis.2018.12.017DOI Listing
May 2019

WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.

Parkinsonism Relat Disord 2018 Oct 8. Epub 2018 Oct 8.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183039
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http://dx.doi.org/10.1016/j.parkreldis.2018.09.014DOI Listing
October 2018

Novel Imaging Biomarkers for Huntington's Disease and Other Hereditary Choreas.

Curr Neurol Neurosci Rep 2018 10 5;18(12):85. Epub 2018 Oct 5.

Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet and Stockholm County Council, R5:02 Karolinska University Hospital, SE-171 76, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s11910-018-0890-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182636PMC
October 2018

Chorea, psychosis, acanthocytosis, and prolonged survival associated with mutations.

Neurology 2018 10 14;91(15):710-712. Epub 2018 Sep 14.

From Karolinska University Hospital (M.P., A.P., C.F., M.D., J.L.-M., H.S., K.L., I.S., A. Wedell, A. Wredenberg, P.S.); Karolinska Institutet (M.P., A.P., C.F., Å.B., K.L., A. Wedell, A. Wredenberg, P.S.), Stockholm, Sweden; James J. Peters Veterans Medical Affair Center (R.H.W.), Bronx; and Mount Sinai School of Medicine (R.H.W.), New York, NY.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177277PMC
October 2018

Pathological Study of a Premutation Carrier With Progressive Supranuclear Palsy.

Front Genet 2018 15;9:317. Epub 2018 Aug 15.

Department of Neurology and Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.3389/fgene.2018.00317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103471PMC
August 2018

mutation and long-term follow-up of the first hyperekplexia family.

Neurol Genet 2018 Aug 7;4(4):e259. Epub 2018 Aug 7.

Section of Neurology, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089692PMC
August 2018

Paroxysmal Kinesigenic Dyskinesia.

Tremor Other Hyperkinet Mov (N Y) 2017 12;7:529. Epub 2017 Dec 12.

Department of Neurology, Karolinska University Hospital Huddinge, Stockholm, Sweden.

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http://dx.doi.org/10.7916/D8R79N2FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740227PMC
September 2018

An unusual cause of fatal rapid-onset ataxia plus syndrome.

Cerebellum Ataxias 2017 21;4. Epub 2017 Apr 21.

Department of Neurology, Karolinska University Hospital, 141 86 Stockholm, Sweden.

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http://dx.doi.org/10.1186/s40673-017-0063-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399832PMC
April 2017

A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.

J Neurol Sci 2017 04 4;375:245-247. Epub 2017 Feb 4.

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.jns.2017.02.007DOI Listing
April 2017

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients.

Blood Cells Mol Dis 2018 02 21;68:86-92. Epub 2016 Oct 21.

Department of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2016.10.011DOI Listing
February 2018

Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Neurol Genet 2016 Aug 6;2(4):e84. Epub 2016 Jul 6.

Department of Neurology (M.P., P.S.), Department of Neuroradiology (H.A., S.H.), Karolinska University Hospital; Department of Clinical Neuroscience (M.P., H.A., J.Y., S.H., P.S.), Division of Clinical Chemistry, Department of Laboratory Medicine (A.S., I.B.), Department of Neuroimaging (G.B.), Karolinska Institutet, Stockholm, Sweden; Department of Biochemistry (A.S.), Faculty of Medicine, University of Khartoum, Sudan; and St. Erik Eye Hospital (J.Y.), Stockholm, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937718PMC
August 2016

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

Cerebellum 2016 10;15(5):636-40

Department of Neurology and Clinical Neuroscience, Karolinska University Hospital and Karolinska Institutet, 141 86, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s12311-016-0793-xDOI Listing
October 2016

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

Cerebellum 2016 10;15(5):632-5

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s12311-016-0777-xDOI Listing
October 2016

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

Neurol Genet 2016 Feb 21;2(1):e49. Epub 2016 Jan 21.

Department of Neurology (M.P., P.S., R.P.) and Department of Genetics (H.M., A.N.), Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience (M.P., P.S., R.P.) and Department of Molecular Medicine and Surgery (H.M., A.N.), Karolinska Institutet, Stockholm, Sweden; and Institute of Cancer and Genomic Sciences (M.T., J.J.R.), University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817910PMC
February 2016

Hypospadias as a novel feature in spinal bulbar muscle atrophy.

J Neurol 2016 Apr 12;263(4):703-6. Epub 2016 Feb 12.

Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://link.springer.com/10.1007/s00415-016-8038-y
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http://dx.doi.org/10.1007/s00415-016-8038-yDOI Listing
April 2016

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

Neurology 2015 Nov;85(19):e143-4

From the Departments of Neurology (M.P., P.S.) and Otolaryngology (P.-Å.L.), Karolinska University Hospital; Department of Clinical Neuroscience (N.P., P.S.), Karolinska Institutet, Stockholm, Sweden; Department of Neurology (R.H.W.), James J. Peters Veterans Medical Affair Center, Bronx; and Department of Neurology (R.H.W.), Mount Sinai School of Medicine, New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000002108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653107PMC
November 2015

Concomitant Facioscapulohumeral Muscular Dystrophy and Parkinsonism Mimicking Multiple System Atrophy.

Mov Disord Clin Pract 2016 Mar-Apr;3(2):194-196. Epub 2015 Oct 20.

Department of Clinical Neuroscience Karolinska Institutet Stockholm Sweden.

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http://dx.doi.org/10.1002/mdc3.12247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353534PMC
October 2015

Novel Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.

Mov Disord Clin Pract 2015 Mar 10;2(1):90-92. Epub 2014 Dec 10.

Translational Neuropharmacology Clinical Neuroscience Center for Molecular Medicine Karolinska Institutet Stockholm Sweden.

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http://doi.wiley.com/10.1002/mdc3.12112
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http://dx.doi.org/10.1002/mdc3.12112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183453PMC
March 2015

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation.

Prion 2013 Nov-Dec;7(6):501-10. Epub 2013 Nov 25.

Translational Neuropharmacology; Clinical Neuroscience; Center for Molecular Medicine; Karolinska Institute; Stockholm, Sweden; Department of Neurology; Karolinska University Hospital; Stockholm, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201619PMC
http://dx.doi.org/10.4161/pri.27260DOI Listing
March 2015