Publications by authors named "Wolfram Kress"

83Publications

First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.

Hum Mutat 2020 Sep 11;41(9):1600-1614. Epub 2020 Jul 11.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Children's Hospital University of Essen, Essen, Germany.

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http://dx.doi.org/10.1002/humu.24062DOI Listing
September 2020

Differential diagnosis of vacuolar myopathies in the NGS era.

Brain Pathol 2020 09 15;30(5):877-896. Epub 2020 Jun 15.

Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1111/bpa.12864DOI Listing
September 2020

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Sci Rep 2020 02 7;10(1):2158. Epub 2020 Feb 7.

Muscle Research Unit, Experimental and Clinical Research Center, a joint cooperation between the Charité Universitätsmedizin and the Max Delbrück Center for Molecular Medicine, Berlin, 13125, Germany.

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http://dx.doi.org/10.1038/s41598-020-58668-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005895PMC
February 2020

A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy.

Neuromuscul Disord 2018 08 20;28(8):671-674. Epub 2018 Jun 20.

Sozialpädiatrisches Zentrum Frankfurt Mitte, Epilepsieambulanz - Neuromuskuläres Zentrum, Theobald-Christ-Str. 16, 60316 Frankfurt am Main, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183010
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http://dx.doi.org/10.1016/j.nmd.2018.06.006DOI Listing
August 2018

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.

Front Neurol 2018 19;9:463. Epub 2018 Jun 19.

Institute of Human Genetics, Julius-Maximilians-University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.3389/fneur.2018.00463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020772PMC
June 2018

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2.

J Neurol 2017 Dec 30;264(12):2472-2480. Epub 2017 Oct 30.

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

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http://dx.doi.org/10.1007/s00415-017-8653-2DOI Listing
December 2017

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Neurol Genet 2017 Aug 10;3(4):e167. Epub 2017 Jul 10.

Institute of Human Genetics (M.S., B.Z., S.P.), Department of Neurology (J.Z., J.S.), and Department of Neuroradiology (P.H.), University Medical Center Göttingen; Department of Human Genetics (W.K.), University of Würzburg; and CeGaT GmbH und Praxis für Humangenetik (J.M.), Tübingen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524525PMC
August 2017

Mutation c.943G>T (p.Ala315Ser) in Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Mol Syndromol 2017 Mar 13;8(2):93-97. Epub 2017 Jan 13.

Institute of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1159/000455028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465678PMC
March 2017

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy.

Neuromuscul Disord 2017 Jul 7;27(7):631-634. Epub 2017 Apr 7.

Department of Human Genetics, University of Würzburg, Biozentrum Am Hubland, 97074 Würzburg, Germany.

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http://dx.doi.org/10.1016/j.nmd.2017.04.003DOI Listing
July 2017

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies.

Neuropediatrics 2017 08 8;48(4):242-246. Epub 2017 May 8.

Institute of Human Genetics, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1055/s-0037-1602660DOI Listing
August 2017

Leg Muscle Involvement in Facioscapulohumeral Muscular Dystrophy: Comparison between Facioscapulohumeral Muscular Dystrophy Types 1 and 2.

Eur Neurol 2017 18;77(1-2):32-39. Epub 2016 Nov 18.

Department of Neurology, Klinikum Kassel - University Hospital of the University of Southampton, Kassel, Germany.

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http://dx.doi.org/10.1159/000452763DOI Listing
September 2017

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Eur J Hum Genet 2016 10 25;24(10):1467-72. Epub 2016 May 25.

Department of Human Genetics, Julius-Maximilians-University, Würzburg, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027686PMC
October 2016

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Eur J Hum Genet 2015 Nov 20;23(11). Epub 2015 May 20.

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

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http://dx.doi.org/10.1038/ejhg.2015.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613485PMC
November 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

Neuropediatrics 2014 Oct 21;45(5):333-5. Epub 2014 Jul 21.

Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.

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http://dx.doi.org/10.1055/s-0034-1383824DOI Listing
October 2014

Novel recessive myotilin mutation causes severe myofibrillar myopathy.

Neurogenetics 2014 Aug 14;15(3):151-6. Epub 2014 Jun 14.

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

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http://link.springer.com/content/pdf/10.1007/s10048-014-0410
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http://link.springer.com/10.1007/s10048-014-0410-4
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http://dx.doi.org/10.1007/s10048-014-0410-4DOI Listing
August 2014

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Eur J Pediatr 2014 Oct 27;173(10):1373-6. Epub 2014 Apr 27.

Department of Otorhinolaryngology, University of Goettingen, Robert Koch-Str. 40, 37075, Goettingen, Germany,

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http://dx.doi.org/10.1007/s00431-014-2317-3DOI Listing
October 2014

Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.

Indian J Pediatr 2014 Nov 6;81(11):1230-2. Epub 2014 Apr 6.

Department of Pediatrics, MAMC Associated Lok Nayak Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-014-1424-5DOI Listing
November 2014

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping.

Neuromuscul Disord 2014 Jan 10;24(1):43-7. Epub 2013 Sep 10.

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

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http://dx.doi.org/10.1016/j.nmd.2013.09.003DOI Listing
January 2014

Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Mar 8;15(1-2):15-20. Epub 2013 Nov 8.

German Centre for Neurodegenerative Diseases (DZNE) , Site Rostock/Greifswald, Rostock.

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http://dx.doi.org/10.3109/21678421.2013.837927DOI Listing
March 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

Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.

Neurology 2013 Sep 6;81(10):932-5. Epub 2013 Aug 6.

Department of Neurology, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1212/WNL.0b013e3182a35285DOI Listing
September 2013

Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.

Acta Myol 2012 Dec;31(3):179-83

Department of Human Genetics, University Würzburg, Biozentrum, Würzburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631803PMC
December 2012

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.

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

Novel FHL1 mutation in a family with reducing body myopathy.

Muscle Nerve 2013 Jan 21;47(1):127-34. Epub 2012 Nov 21.

Institute of Neuropathology, University Hospital Aachen, Aachen, Germany.

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http://dx.doi.org/10.1002/mus.23500DOI Listing
January 2013

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Eur J Hum Genet 2013 May 12;21(5):540-9. Epub 2012 Sep 12.

Unidade de Investigação e Desenvolvimento, Departamento de Genética, Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, IP, Porto, Portugal.

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http://www.nature.com/articles/ejhg2012201
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http://dx.doi.org/10.1038/ejhg.2012.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641378PMC
May 2013

ZASPopathy with childhood-onset distal myopathy.

J Neurol 2012 Jul 23;259(7):1494-6. Epub 2012 May 23.

Department of Radiology, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1007/s00415-012-6543-1DOI Listing
July 2012

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Eur J Hum Genet 2012 Oct 23;20(10). Epub 2012 May 23.

Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2012.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068PMC
October 2012

Clinical utility gene card for: proximal spinal muscular atrophy.

Eur J Hum Genet 2012 Jun 18;20(6). Epub 2012 Apr 18.

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

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http://dx.doi.org/10.1038/ejhg.2012.62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355269PMC
June 2012

Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.

Muscle Nerve 2012 May;45(5):740-2

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

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http://dx.doi.org/10.1002/mus.23281DOI Listing
May 2012

Inheritance and variable expression in Rubinstein-Taybi syndrome.

Am J Med Genet A 2010 Sep;152A(9):2254-61

Institut für Humangenetik, Universitätsmedizin der Johannes-Gutenberg-Universität Mainz, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33598DOI Listing
September 2010

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome.

Muscle Nerve 2010 Aug;42(2):273-5

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/mus.21722DOI Listing
August 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.

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

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

J Neurol Sci 2010 Apr 8;291(1-2):79-85. Epub 2010 Feb 8.

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jns.2009.12.008DOI Listing
April 2010

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.

Clin Dysmorphol 2007 Apr;16(2):131-4

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e328014715eDOI Listing
April 2007

A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

Muscle Nerve 2007 May;35(5):599-606

Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstrasse 1a, 80336 Munich, and Department of Neuropathology, University Hospital, RWTH Aachen, Germany.

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http://dx.doi.org/10.1002/mus.20733DOI Listing
May 2007

Variability of the recessive oculopharyngeal muscular dystrophy phenotype.

Muscle Nerve 2007 May;35(5):681-4

Department of Neurology, University Hospital Bonn, Germany.

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http://dx.doi.org/10.1002/mus.20726DOI Listing
May 2007

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Muscle Nerve 2007 Mar;35(3):396-401

Department of Neuropediatrics, Charité University Medical Center, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1002/mus.20705DOI Listing
March 2007

Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.

Cancer Genet Cytogenet 2006 Nov;171(1):76-8

Department of Pediatric Oncology/Hematology, Otto Heubner-Center for Pediatric and Adolescent Medicine (OHC), Charité, Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2006.06.012DOI Listing
November 2006

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

Ann Neurol 2006 Jun;59(6):976-80

Institut National de la Sante et de la Recherche Médicale U384 and Human Genetics Department, CHU, Clermont-Ferrand, France.

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http://dx.doi.org/10.1002/ana.20879DOI Listing
June 2006

Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2.

J Neurol 2004 Jun;251(6):710-4

Department of Neurology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.

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http://dx.doi.org/10.1007/s00415-004-0408-1DOI Listing
June 2004

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.

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

Aprataxin mutations are a rare cause of early onset ataxia in Germany.

J Neurol 2004 May;251(5):591-4

Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.

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http://dx.doi.org/10.1007/s00415-004-0374-7DOI Listing
May 2004

Genotype-phenotype correlations in Noonan syndrome.

J Pediatr 2004 Mar;144(3):368-74

Institute of Human Genetics, Departments of Pediatric Endocrinology and Pediatric Cardiology, University Children's Hospital, Erlangen, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2003.11.032DOI Listing
March 2004

Muscle pathology in 57 patients with myotonic dystrophy type 2.

Muscle Nerve 2004 Feb;29(2):275-81

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

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http://dx.doi.org/10.1002/mus.10545DOI Listing
February 2004

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.

Neurogenetics 2004 Feb 10;5(1):55-9. Epub 2003 Dec 10.

Institut für Humangenetik, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany.

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http://dx.doi.org/10.1007/s10048-003-0168-6DOI Listing
February 2004

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Neurology 2003 Apr;60(8):1363-5

Department of Pediatrics and Pediatric Neurology, Ruhr-University Bochum, Germany.

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http://www.neurology.org/content/60/8/1363.full.pdf
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http://dx.doi.org/10.1212/01.wnl.0000058763.90924.faDOI Listing
April 2003

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Hum Mutat 2003 Jan;21(1):100

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/humu.9101DOI Listing
January 2003