M C Walter
Affiliation: University of Munich
- [New insights in pathogenesis and therapy of sporadic inclusion body myositis (s-IBM)]M C Walter
Friedrich Baur Institut, Medizinische Klink, Klinikum der Ludwig Maximilians Universität, Ziemssenstr 1a, 80336 Munchen
Nervenarzt 72:117-21. 2001..Stabilization of disease progression was shown only by intravenous immunoglobulin (IVIG) therapy. Future findings in the field of s-IBM pathogenesis may result in better therapeutic options...
- Long-term follow-up in patients with CCFDN syndromeMaggie C Walter
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
Neurology 83:1337-44. 2014..We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease...
- Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromesOlivia Schreiber
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1, D 80336 Munich, Germany
BMC Med Genet 14:92. 2013..Even if a mutation in one disease gene has been found, further genetic testing might be warranted in cases with unusual clinical presentation...
- A new web-based method for automated analysis of muscle histologyCordula Pertl
Laboratory of Molecular Myology, Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians UniversitÃ¤t MÃ¼nchen, Germany
BMC Musculoskelet Disord 14:26. 2013..A standardised and mainly automated quantitative assessment of histopathological parameters in the mdx mouse model is desirable to allow an objective comparison between laboratories...
- Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trialMaggie C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, Munich 80336, Germany
Orphanet J Rare Dis 8:26. 2013..DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B)...
- High-dose immunoglobulin therapy in sporadic inclusion body myositis: a double-blind, placebo-controlled studyM C Walter
Department of Neurology, Friedrich Baur Institut, Medizinische Klink, University of Munich, Germany
J Neurol 247:22-8. 2000..Treatment with IVIG may be mildly effective in s-IBM by preventing disease progression or inducing mild improvement. Long-term studies are needed to evaluate further the benefit of IVIG therapy in s-IBM...
- Successful treatment of muscle sarcoidosis with thalidomideM C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Ziemssenstr 1a, 80336 Munich, Germany
Acta Myol 22:22-5. 2003..This is the first report on the efficacy of thalidomide in muscle sarcoidosis. Therefore, thalidomide may become a second-line agent in patients with severe muscle and skin involvement, but further studies are warranted...
- Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical studyMaggie C Walter
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, 80336 Munich, Germany
J Neurol 249:1717-22. 2002..Cr supplementation was well tolerated without clinically relevant side effects, but did not result in significant improvement of muscle strength or daily-life activities...
- Novel approaches to treat muscular dystrophiesM C Walter
Department of Neurology, Friedrich Baur Institut and Genzentrum München, Ludwig Maximilians University, University of Munich, Ziemssenstr 1a, 80336 Munchen, Germany
Expert Opin Investig Drugs 10:695-707. 2001..Current treatment strategies are discussed and a perspective for effective molecular therapy is given...
- Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical studyM C Walter
Friedrich Baur Institute, Ludwig Maximilians University of Munich, Germany
Neurology 54:1848-50. 2000..There was mild but significant improvement in muscle strength and daily-life activities by Medical Research Council scales and the Neuromuscular Symptom Score. Cr was well tolerated throughout the study period...
- Respiratory insufficiency as a presenting symptom of LGMD2D in adulthoodM C Walter
Friedrich Baur Institute, Department of Neurology, Gene Center, Ludwig Maximilians University of Munich, Germany
Acta Myol 23:1-5. 2004..In this study, two adult brothers, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory...
- Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350PM C Walter
Friedrich Baur Institute, Ludwig Maximilians University of Munich, Department of Neurology, Munich, Germany
Brain 130:1485-96. 2007..In addition, mutations of the desmin gene should be considered early in the diagnostic work-up of any adult-onset, dominant myopathy, even if specific myofibrillar pathology is absent...
- LGMD 2I due to the common mutation 826C>A in the FKRP gene presenting as myopathy with vacuoles and paired-helical filamentsP Reilich
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
Acta Myol 25:73-6. 2006..Therefore, our findings further extend the morphological variability of muscular dystrophies due to FKRP mutations...
- GNE protein expression and subcellular distribution are unaltered in HIBMS Krause
Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany
Neurology 69:655-9. 2007..For diagnostic purposes, direct genetic analysis of the GNE gene in patients with IBM will remain the mainstay and is not aided by immunohistochemistry or immunoblotting using antibodies against the GNE protein...
- Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber
Haunersche Kinderklinik, Childrens Hospital, Ludwig Maximilians University, Lindwurmstr 4, 80337 Munich, Germany
Neuromuscul Disord 17:698-706. 2007..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
- Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain diseaseUte Hehr
Center for Human Genetics and Department of Human Genetics, University of Regensburg, Universitätklinikum D3, Franz Josef Strauss Allee 11, Regensburg 93053, Germany
Neurogenetics 8:279-88. 2007..This supports the notion that additional environmental and/or genetic factors may contribute to the observed broad spectrum of POMGnT1-associated phenotypes...
- [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]Rita Horvath
Jahn Ferenc Dél pesti Kórház, Neurológiai Osztály, Budapest
Ideggyogy Sz 58:52-8. 2005..The authors would like to emphasize the importance of the above described combined strategy in diagnosing limb girdle muscular dystrophies...
- A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assayAstrid Milic
Laboratory of Clinical Neurogenetics and Muscular Disorders, Zagreb University School of Medicine, Croatian Institute for Brain Research, Salata 12, 10000 Zagreb, Croatia
Neuromuscul Disord 17:148-56. 2007..Our assay is easily adaptable to routine and appears to be more sensitive than common analysis by immunodetection...
- The long-term outcome of anti-Jo-1-positive inflammatory myopathiesMichael Späth
Friedrich Baur Institut, Department of Neurology, University of Munich, Ziemssenstr 1a, 80336, Germany
J Neurol 251:859-64. 2004..To determine the response to treatment and the long-term outcome of patients with the antisynthetase syndrome associated with anti-Jo-1-antibodies...
- Homozygosity for CCTG mutation in myotonic dystrophy type 2Benedikt G H Schoser
Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, D 80336 Munich, Germany
Brain 127:1868-77. 2004..None of these children have signs or symptoms of disease until the age of 18 years. Homozygosity for the DM2 expansion does not seem to alter the disease phenotype as compared with the heterozygous state...
- A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammationSabine Krause
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
Neuromuscul Disord 13:830-4. 2003..We conclude that muscle inflammation is not sufficient to exclude the diagnosis of hereditary inclusion body myopathy...
- Variable reduction of caveolin-3 in patients with LGMD2B/MMMaggie C Walter
Gene Center, Friedrich Baur Institute and Dept of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
J Neurol 250:1431-8. 2003..We provide further evidence that dysferlin and caveolin-3 interact in human skeletal muscle. It remains to be elucidated whether the loss of this interaction contributes to pathogenic events in muscular dystrophy...
- Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patientsRudolf A Kley
Department of Neurology, Neuromuscular Center Ruhrgebiet, Ruhr University Bochum, Bochum, Germany
Brain 130:3250-64. 2007..Therapy is so far limited to symptomatic treatment. The German filaminopathy cohort, the largest group of patients studied so far, shares phenotypic features with LGMD and presents with characteristic histopathological findings of MFM...
- Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathiesKatharina Strach
Department of Radiology, University Hospital Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
Neuromuscul Disord 18:475-82. 2008..Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy...
- Gentamicin fails to increase dystrophin expression in dystrophin-deficient musclePatrick Dunant
Genzentrum, Friedrich Baur Institute, and Department of Neurology, Ludwig Maximilians University, Feodor Lynen Str 25, 81377 Munich, Germany
Muscle Nerve 27:624-7. 2003..Therefore, we believe that additional animal experimentation is required to further evaluate the possibility of in vivo aminoglycoside therapy of DMD...
- Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophyJuliane S Muller
Department of Neurology, Friedrich Baur Institute, Lab for Molecular Myology, Ludwig Maximilians University, Marchioninistr 17, 81377 Munich, Germany
Neuromuscul Disord 16:432-6. 2006..This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations...
- Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophyMaggie C Walter
Friedrich Baur Institute, Gene Center and Department of Neurology, Ludwig Maximilians University of Munich, Munich, Germany
Neuromuscul Disord 15:40-4. 2005..Thus, the mutation with this unique phenotypical expression represents the first example for a link between the neurogenic and myogenic phenotypes and extends the clinical variability of laminopathies...
- Ocular features of the congenital cataracts facial dysmorphism neuropathy syndromeAndrea Müllner-Eidenböck
Department of Ophthalmology, University Hospital of Vienna, Vienna, Austria
Ophthalmology 111:1415-23. 2004..To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients...
- Analysis of HLA class I and II alleles in sporadic inclusion-body myositisJohannes B Lampe
Klinik fur Neurologie, Technische Universitat Dresden, Fetscherstrasse 74, 01307, Dresden, Germany
J Neurol 250:1313-7. 2003..0000002), and DQB1*05 (p = 0.02). HLA typing may be helpful to distinguish between subgroups of s-IBM patients. Moreover, HLA analysis may aid in identifying patients who might profit from future therapeutic strategies...
- Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDsDirk Fischer
Dept of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
J Neurol 252:538-47. 2005..Our results indicate that muscular MRI is a powerful tool for differentiating LGMD2I from other forms of autosomal recessive LGMDs and dystrophinopathies...