Maggie C Walter

Maggie C Walter

UNVERIFIED PROFILE

Are you Maggie C Walter?   Register this Author

Register author
Maggie C Walter

Maggie C Walter

Publications by authors named "Maggie C Walter"

Are you Maggie C Walter?   Register this Author

90Publications

2519Reads

37Profile Views

[Spinal Muscular Atrophy - expert recommendations for the use of nusinersen in adult patients].

Fortschr Neurol Psychiatr 2019 Dec 17;87(12):703-710. Epub 2019 Dec 17.

Klinik für Neurologie, Universitätsmedizin Essen.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0996-0994DOI Listing
December 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 Nov 16;29(11):827-841. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI Listing
November 2019

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Orphanet J Rare Dis 2019 06 24;14(1):152. Epub 2019 Jun 24.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1125-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591958PMC
June 2019

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.

Neuromuscul Disord 2019 05 20;29(5):392-397. Epub 2019 Feb 20.

Friedrich-Baur-Institute, Dep. of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstraße 1A, 80336 Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.02.007DOI Listing
May 2019

Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.

Neurology 2019 04 27;92(17):e2027-e2037. Epub 2019 Mar 27.

From the Institute for Healthcare Management and Health Sciences (E.S., C.K.) and Healthcare Management and Health Services Research (L.G., K.N.), University of Bayreuth; Department of Neurology (S.T., S.K., P.R., M.C.W.), Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich; and Department of Neurology (O.S.-K.), Hannover Medical School, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007376DOI Listing
April 2019

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Orphanet J Rare Dis 2019 01 21;14(1):18. Epub 2019 Jan 21.

Department of Neuropediatrics and Muscle Disorders, Medical Center- University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-0
Publisher Site
http://dx.doi.org/10.1186/s13023-019-0998-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341722PMC
January 2019

[Molecular therapies in muscular dystrophies].

Fortschr Neurol Psychiatr 2018 09 24;86(9):535-542. Epub 2018 Sep 24.

Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/a-0624-9513
Publisher Site
http://dx.doi.org/10.1055/a-0624-9513DOI Listing
September 2018

[Spinal muscular atrophy - clinical spectrum and therapy].

Fortschr Neurol Psychiatr 2018 09 24;86(9):543-550. Epub 2018 Sep 24.

Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0621-9139DOI Listing
September 2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.04.006DOI Listing
June 2018

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

Neuromuscul Disord 2017 12 23;27(12):e1. Epub 2017 Oct 23.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.10.001DOI Listing
December 2017

[Spinal muscular atrophy : Time for newborn screening?]

Nervenarzt 2017 Dec;88(12):1358-1366

Abteilung für Neuropädiatrie, Entwicklungsneurologie und Sozialpädiatrie, Zentrum für neuromuskuläre Erkrankungen und Neuroimmunologie im Kindesalter, LMU Zentrum - iSPZ Hauner, Kinderklinik und Kinderpoliklinik, Dr. von Haunersches Kinderspital der Universität München, Lindwurmstraße 4, 80337, München, Deutschland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00115-017-0447-3DOI Listing
December 2017

The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.

Acta Myol 2017 Dec 1;36(4):203-206. Epub 2017 Dec 1.

1 Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Greece.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953233PMC
December 2017

Recent developments in Duchenne muscular dystrophy: facts and numbers.

J Cachexia Sarcopenia Muscle 2017 10;8(5):681-685

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcsm.12245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659056PMC
October 2017

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Neuromuscul Disord 2017 Sep 1;27(9):856-860. Epub 2017 Jun 1.

Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.05.017DOI Listing
September 2017

Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.

Histochem Cell Biol 2016 Nov 8;146(5):569-584. Epub 2016 Jul 8.

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, PO Box 23, Belgrade, 11010, Serbia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00418-016-1465-0DOI Listing
November 2016

Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy.

Sci Rep 2016 09 16;6:33362. Epub 2016 Sep 16.

Laboratory for Functional Genome Analysis (LAFUGA), Gene Center, LMU Munich, Feodor-Lynen-Str. 25, D-81377 Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep33362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025886PMC
September 2016

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Neurology 2016 Jul 11;87(3):295-8. Epub 2016 May 11.

From Newborn Screening and Metabolic Diagnostics (Z.L., P.N.C.), University Medical Center Hamburg-Eppendorf, Hamburg; Friedrich-Baur Institute, Department of Neurology (S.W., B.S.-W., M.C.W., P.R., T.K., B.S.), and Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik (W.M.-F.), Ludwig Maximilian University of Munich, Germany; The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.A.W.), Oswestry; Institute of Genetic Medicine (T.E., M.G., V.S.), Newcastle University; Salford Royal NHS Foundation Trust (M.R.), Salford; UCL Institute of Neurology and National Hospital (R.Q.), Queen Square, London; Department of Neurology (D.H.-J.), Oxford University Hospital, UK; and Department of Neurology (S.Z., M.D.), Halle University, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955273PMC
July 2016

Disease burden of spinal muscular atrophy in Germany.

Orphanet J Rare Dis 2016 05 4;11(1):58. Epub 2016 May 4.

Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444, Bayreuth, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0424-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857429PMC
May 2016

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Neuromolecular Med 2016 Mar 16;18(1):81-90. Epub 2015 Nov 16.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12017-015-8379-1DOI Listing
March 2016

Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.

Neuropediatrics 2015 Aug 25;46(4):282-6. Epub 2015 Jun 25.

Department of Pediatric Neurology and Developmental Medicine, Ludwig-Maximilians-University of Munich, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1554100DOI Listing
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.

View Article

Download full-text PDF

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

Long-term follow-up in patients with CCFDN syndrome.

Neurology 2014 Oct 3;83(15):1337-44. Epub 2014 Sep 3.

From the Friedrich-Baur Institute (M.C.W.), Department of Neurology, Ludwig-Maximilians University of Munich, Germany; Gottfried von Preyer'sches Kinderspital (G.B.), Vienna; Ambulatorium Wiental (U.Z.), Center for Developmental Neurology, Vienna; Department of Ophthalmology (A.M.-E., E.M.), University of Vienna, Austria; Harry Perkins Institute for Medical Research and Centre for Medical Research (L.K.), The University of Western Australia, Perth; Institute of Genetic Medicine (H.L.), Newcastle University, Newcastle-upon-Tyne, UK; and Department of Neuropaediatrics (W.M.-F.), Dr. von Hauner'sches Kinderspital, University of Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000874DOI Listing
October 2014

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
Web Search
http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
Web Search
http://link.springer.com/10.1007/s00415-013-7154-1
Publisher Site
http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 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.

View Article

Download full-text PDF

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

Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy.

Neuromuscul Disord 2013 May 13;23(5):418-26. Epub 2013 Mar 13.

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966130006
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2013.02.006DOI Listing
May 2013

miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Orphanet J Rare Dis 2013 Apr 5;8:55. Epub 2013 Apr 5.

Center for Genetic Medicine Research, Children's Research Institute, Washington, DC, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637251PMC
April 2013

A new web-based method for automated analysis of muscle histology.

BMC Musculoskelet Disord 2013 Jan 16;14:26. Epub 2013 Jan 16.

Laboratory of Molecular Myology, Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-Universität München, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2474-14-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560198PMC
January 2013

Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex.

J Neuroimmunol 2011 Jun 2;235(1-2):77-83. Epub 2011 May 2.

School of Pathology and Laboratory Medicine, M504, University of Western Australia, Perth, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jneuroim.2011.02.011DOI Listing
June 2011

Laminopathy presenting as familial atrial fibrillation.

Int J Cardiol 2010 Nov 15;145(2):394-396. Epub 2010 May 15.

Department of Medicine I, Klinikum Grosshadern of the Ludwig Maximilians University of Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2010.04.024DOI Listing
November 2010

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

J Neurol 2010 Sep 20;257(9):1517-23. Epub 2010 Apr 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-010-5565-9DOI Listing
September 2010

Reverse protein arrays as novel approach for protein quantification in muscular dystrophies.

Neuromuscul Disord 2010 May 20;20(5):302-9. Epub 2010 Mar 20.

University of Applied Sciences Northwestern Switzerland, School of Life Sciences, Gründenstrasse 40, CH-4132 Muttenz, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2010.02.017DOI Listing
May 2010

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Neuromuscul Disord 2010 Apr 19;20(4):255-9. Epub 2010 Feb 19.

Friedrich-Baur-Institute, Department of Neurology, University of Munich, D-80336 Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2010.01.012DOI Listing
April 2010

Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.

J Neuropathol Exp Neurol 2010 Apr;69(4):415-24

Klinikum Grosshadern, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/NEN.0b013e3181d71305DOI Listing
April 2010

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.

Hum Mol Genet 2009 Nov 31;18(21):4089-101. Epub 2009 Jul 31.

Centre de Génétique Moléculaire et Cellulaire, UMR 5534, Université Lyon 1, 69622 Villeurbanne Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp358DOI Listing
November 2009

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.

Neuromuscul Disord 2009 Nov 13;19(11):766-72. Epub 2009 Oct 13.

Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, CA 92868, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2009.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782446PMC
November 2009

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Neuromuscul Disord 2009 Jul 23;19(7):481-4. Epub 2009 Jun 23.

Friedrich-Baur-Institute and Department of Neurology, Ludwig-Maximilians-University, Marchioninistrasse 17, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2009.05.001DOI Listing
July 2009

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Hum Mol Genet 2009 May 16;18(9):1590-9. Epub 2009 Feb 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp074DOI Listing
May 2009

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy.

Neuromuscul Disord 2009 Feb 23;19(2):167-71. Epub 2009 Jan 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2008.11.010DOI Listing
February 2009

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol.

Eur Radiol 2008 Dec 22;18(12):2922-36. Epub 2008 Jul 22.

Institute for Clinical Radiology, Ludwig-Maximilians-University, Ziemssenstr. 1, 80336, Munich, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00330-008-1071-1
Publisher Site
http://dx.doi.org/10.1007/s00330-008-1071-1DOI Listing
December 2008

Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions.

Arthritis Rheum 2008 Nov;58(11):3600-8

University of Wuerzburg, Wuerzburg, Germany, and University of Erlangen, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.23997DOI Listing
November 2008

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Neurogenetics 2007 Nov 29;8(4):279-88. Epub 2007 Sep 29.

Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz-Josef-Strauss-Allee 11, Regensburg 93053, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-007-0096-yDOI Listing
November 2007

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Neuromuscul Disord 2007 Oct 23;17(9-10):698-706. Epub 2007 Jul 23.

Haunersche Kinderklinik, Childrens Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337 Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2007.06.002DOI Listing
October 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.

Neuromuscul Disord 2007 Feb 22;17(2):148-56. Epub 2007 Jan 22.

Laboratory of Clinical Neurogenetics and Muscular Disorders, Zagreb University School of Medicine, Croatian Institute for Brain Research, Salata 12, 10000 Zagreb, Croatia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2006.11.001DOI Listing
February 2007

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy.

Neuromuscul Disord 2006 Jul 26;16(7):432-6. Epub 2006 May 26.

Department of Neurology, Friedrich-Baur-Institute, Lab. for Molecular Myology, Ludwig-Maximilians-University, Marchioninistr. 17, 81377 Munich, Germany.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966060012
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2006.04.006DOI Listing
July 2006

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.

J Neurol 2005 May 23;252(5):538-47. Epub 2005 Feb 23.

Dept. of Neurology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-005-0684-4DOI Listing
May 2005

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.

Neuromuscul Disord 2005 Jan;15(1):40-4

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2004.09.007DOI Listing
January 2005

[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family].

Ideggyogy Sz 2005 Jan;58(1-2):52-8

Jahn Ferenc Dél-pesti Kórház, Neurológiai Osztály, Budapest.

View Article

Download full-text PDF

Source
January 2005

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Brain 2004 Aug 1;127(Pt 8):1868-77. Epub 2004 Jul 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awh210DOI Listing
August 2004

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

Ophthalmology 2004 Jul;111(7):1415-23

Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2003.11.007DOI Listing
July 2004

The long-term outcome of anti-Jo-1-positive inflammatory myopathies.

J Neurol 2004 Jul;251(7):859-64

Friedrich-Baur-Institut, Department of Neurology, University of Munich, Ziemssenstr. 1a, 80336, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-004-0449-5DOI Listing
July 2004

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

J Neurol 2003 Dec;250(12):1431-8

Gene Center, Friedrich-Baur-Institute & Dept. of Neurology, Ludwig Maximilians University of Munich, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-003-0234-xDOI Listing
December 2003

Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.

J Neurol 2003 Nov;250(11):1313-7

Klinik für Neurologie, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-003-0204-3DOI Listing
November 2003

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle.

Muscle Nerve 2003 May;27(5):624-7

Genzentrum, Friedrich-Baur-Institute, and Department of Neurology, Ludwig-Maximilians-University, Feodor-Lynen-Str 25, 81377 Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.10341DOI Listing
May 2003