Jan Senderek

Jan Senderek

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Jan Senderek

Jan Senderek

Publications by authors named "Jan Senderek"

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Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
May 2019

[Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm].

Fortschr Neurol Psychiatr 2018 09 24;86(9):566-574. Epub 2018 Sep 24.

Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der LMU München.

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http://dx.doi.org/10.1055/a-0655-7659DOI Listing
September 2018

Hereditary Neuropathies: Update 2017.

Neuropediatrics 2017 08 8;48(4):282-293. Epub 2017 Jun 8.

Friedrich-Baur-Institut, LMU Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1603518DOI Listing
August 2017

Towards a functional pathology of hereditary neuropathies.

Acta Neuropathol 2017 04 28;133(4):493-515. Epub 2016 Nov 28.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, 80336, Munich, Germany.

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http://link.springer.com/10.1007/s00401-016-1645-y
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http://dx.doi.org/10.1007/s00401-016-1645-yDOI Listing
April 2017

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

Brain 2016 08 3;139(Pt 8):2143-53. Epub 2016 Jun 3.

1 John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK

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http://dx.doi.org/10.1093/brain/aww130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958899PMC
August 2016

Behr syndrome with homozygous C19ORF12 mutation.

J Neurol Sci 2015 Oct 9;357(1-2):115-8. Epub 2015 Jul 9.

Department of Neurology, University of Muenster, Germany.

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http://dx.doi.org/10.1016/j.jns.2015.07.009DOI Listing
October 2015

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Brain 2015 Aug 13;138(Pt 8):2161-72. Epub 2015 Jun 13.

2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium.

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http://dx.doi.org/10.1093/brain/awv158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840952PMC
August 2015

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

Neuromuscul Disord 2015 Jul 16;25(7):577-84. Epub 2015 Apr 16.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2015.04.005DOI Listing
July 2015

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Hum Mol Genet 2015 Jun 12;24(12):3418-26. Epub 2015 Mar 12.

Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, 80336 Munich, Germany,

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http://dx.doi.org/10.1093/hmg/ddv090DOI Listing
June 2015

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Brain 2015 Apr 11;138(Pt 4):845-61. Epub 2015 Feb 11.

4 Peripheral Neuropathy Research Laboratory, Mayo Clinic, Rochester, MN, USA 6 Department of Laboratory Medicine and Pathology, Mayo Clinic Rochester MN, USA 23 Department of Medical Genetics, Mayo Clinic Rochester MN, USA

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http://dx.doi.org/10.1093/brain/awv010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014076PMC
April 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Neurology 2015 Feb 7;84(5):523-31. Epub 2015 Jan 7.

From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's Hospital, St Thomas' Hospital, the Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section and the Department of Clinical Neuroscience, IoP, King's College, London, UK; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics (U.S.), University of Essen, Germany; Department of Neurology (F.N.), King's College Hospital, London; Department of Clinical Genetics (C.D.), Guy's Hospital, London, UK; and Friedrich Baur Institute (J.S.), Department of Neurology, Ludwig Maximilians University Munich, Germany.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000122
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http://dx.doi.org/10.1212/WNL.0000000000001220DOI Listing
February 2015

SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India.

J Pediatr Neurosci 2014 Sep-Dec;9(3):291-2

Department of Pediatrics, Division of Pediatric Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

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http://www.pediatricneurosciences.com/text.asp?2014/9/3/291/
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http://dx.doi.org/10.4103/1817-1745.147597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302561PMC
January 2015

Phenotype of matrin-3-related distal myopathy in 16 German patients.

Ann Neurol 2014 Nov 16;76(5):669-80. Epub 2014 Sep 16.

Department of Neurology, Martin Luther University of Halle-Wittenberg, Halle, Germany.

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http://dx.doi.org/10.1002/ana.24255DOI Listing
November 2014

HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.

Neurology 2014 Nov 1;83(19):1726-32. Epub 2014 Oct 1.

From the Department of Sleep Medicine and Neuromuscular Disorders (B.G., A.S., D.R., H.H., P.Y.), University of Muenster, Germany; Department of Orthopaedics (M.A.-G.), Medical University Vienna, Austria; Institute of Human Genetics (T.S.), Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg; Friedrich Baur Institute (M.Z., J.S.), Department of Neurology, Ludwig Maximilians University Munich; and Institute of Human Genetics (S.R.-S.), RWTH Aachen University, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000000966DOI Listing
November 2014

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

BMC Med Genet 2013 Sep 16;14:92. Epub 2013 Sep 16.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstrasse 1, D-80336 Munich, Germany.

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http://dx.doi.org/10.1186/1471-2350-14-92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848428PMC
September 2013

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

Glia 2013 Jul 2;61(7):1041-51. Epub 2013 Apr 2.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/glia.22493DOI Listing
July 2013

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.

Brain 2012 Dec 20;135(Pt 12):3567-83. Epub 2012 Nov 20.

Department of Biology, Institute of Molecular Health Sciences, Cell Biology, Swiss Federal Institute of Technology, ETH Zurich, 8093 Zurich,Switzerland.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/aws275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525053PMC
December 2012

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

Am J Med Genet A 2010 Jun;152A(6):1540-4

Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33387DOI Listing
June 2010

Small Rho GTPases are key regulators of peripheral nerve biology in health and disease.

J Peripher Nerv Syst 2008 Sep;13(3):188-99

Institute of Cell Biology, Department of Biology, ETH Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1111/j.1529-8027.2008.00177.xDOI Listing
September 2008

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Neuromuscul Disord 2008 Jun 3;18(6):483-92. Epub 2008 Jun 3.

Laboratoire de neurogénétique de la motricité, Centre d'Excellence en Neuromique de l'Université de Montréal, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame-CHUM, Montréal, Que., Canada.

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http://dx.doi.org/10.1016/j.nmd.2008.04.001DOI Listing
June 2008

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Neurogenetics 2007 Apr 29;8(2):137-42. Epub 2006 Nov 29.

Institute for Human Genetics, RWTH Aachen University, Pauwelsstr. 30, 52074 Aachen, Germany.

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http://dx.doi.org/10.1007/s10048-006-0070-0DOI Listing
April 2007

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.

J Hum Genet 2006 3;51(9):788-93. Epub 2006 Aug 3.

Department of Human Genetics, Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany.

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http://dx.doi.org/10.1007/s10038-006-0022-4DOI Listing
November 2006

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Ann Hum Genet 2006 May;70(Pt 3):414-6

Center for Human Genetics, Duke University, Durham, NC 27710-2903, USA.

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http://dx.doi.org/10.1111/j.1529-8817.2005.00252.xDOI Listing
May 2006

Vascular changes in the periosteum of congenital pseudarthrosis of the tibia.

Pathol Res Pract 2005 ;201(4):305-12

Institute of Pathology, University Hospital, RWTH Aachen, Pauwelsstr. 30, D-52057 Aachen, Germany.

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http://dx.doi.org/10.1016/j.prp.2004.09.013DOI Listing
August 2005

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Hum Mutat 2005 Mar;25(3):225-31

Department of Human Genetics, Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1002/humu.20145DOI Listing
March 2005

Autosomal recessive polycystic kidney disease (ARPKD).

J Nephrol 2003 May-Jun;16(3):453-8

Institute for Human Genetics, Aachen University of Technology, Aachen, Germany.

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July 2003

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Brain 2003 Apr;126(Pt 4):920-7

Department of Neuropathology, University Hospital, Technical University of Aachen, Aachen, Germany.

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http://dx.doi.org/10.1093/brain/awg074DOI Listing
April 2003