Brunhilde Wirth

Brunhilde Wirth

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Brunhilde Wirth

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Hereditary nodo-paranodopathies: genomic variants, not just autoantibodies, hit the protein.

Brain 2019 Oct;142(10):2895-2897

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/brain/awz273DOI Listing
October 2019

One year of newborn screening for SMA - Results of a German pilot project.

J Neuromuscul Dis 2019 Sep 28. Epub 2019 Sep 28.

Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, LMU - University of Munich, Munich, Germany.

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http://dx.doi.org/10.3233/JND-190428DOI Listing
September 2019

PLS3 Overexpression Delays Ataxia in Mutant Mice.

Front Neurosci 2019 19;13:993. Epub 2019 Sep 19.

Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute for Genetics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.3389/fnins.2019.00993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6761326PMC
September 2019

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Am J Med Genet A 2019 Aug 18;179(8):1580-1584. Epub 2019 May 18.

Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61198DOI Listing
August 2019

Discrepancy in redetermination of copy numbers in children with SMA.

Neurology 2019 Aug 24;93(6):267-269. Epub 2019 Jun 24.

From the Department of Neuropediatrics and Muscle Disorders (D.C.S., A.P., T.L., J.K.), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg; and the Institute of Human Genetics (J.B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics, and Center for Rare Diseases Cologne, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000007836DOI Listing
August 2019

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 Aug 23. Epub 2019 Aug 23.

Department of Medical Sciences, Section of Medical Genetics, University of Ferrara - Unit of Medical Genetics - University Hospital, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.008DOI Listing
August 2019

NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.

Am J Hum Genet 2019 Jul 20;105(1):221-230. Epub 2019 Jun 20.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612520PMC
July 2019

Plastin 3 influences bone homeostasis through regulation of osteoclast activity.

Hum Mol Genet 2018 12;27(24):4249-4262

Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute for Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/hmg/ddy318DOI Listing
December 2018

Reciprocal Connections Between Cortex and Thalamus Contribute to Retinal Axon Targeting to Dorsal Lateral Geniculate Nucleus.

Cereb Cortex 2018 04;28(4):1168-1182

Institutes of Brain Science, State Key Laboratory of Medical Neurobiology, and Collaborative Innovation Center for Brain Science, Fudan University, Shanghai 200 032, China.

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http://dx.doi.org/10.1093/cercor/bhx028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059179PMC
April 2018

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Neurol Genet 2018 Feb 19;4(1):e209. Epub 2018 Jan 19.

Institute of Human Genetics (N.M.-F., E.J., S.H., S.S., J.M., M.K., M.R., L.T.-B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany; Institute for Zoology, Developmental Biology (H.L., M.H.), Institute of Biochemistry (C.P.), University of Cologne, Germany; Institut du Cerveau et de la Moelle épinière (M.C., A.B., A.D., G.S.), INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS 1127, France; Ecole Pratique des Hautes Etudes (M.C., G.S.), PSL Research University, Paris, France; Laboratory of Molecular and Cellular Neuroscience (M.R.), The Rockefeller University, New York, NY; Laboratory of Neurogenetics (A.S.), National Institute on Aging, National Institutes of Health, Bethesda, MD; John P. Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, FL; and APHP (A.B., A.D., G.S.), Hôpital de la Pitié-Salpêtrière, Centre de réference de neurogénétique, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775069PMC
February 2018

Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016.

Authors:
Brunhilde Wirth

Eur J Hum Genet 2017 12;25(s2):S37-S38

University of Cologne, Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/ejhg.2017.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763259PMC
December 2017

PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e61

Institute of Human Genetics, Center for Molecular Medicine Cologne, and Institute of Genetics, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1093/brain/awx197DOI Listing
October 2017

Advances in understanding the role of disease-associated proteins in spinal muscular atrophy.

Expert Rev Proteomics 2017 07 30;14(7):581-592. Epub 2017 Jun 30.

a Institute of Human Genetics , University of Cologne , Cologne , Germany.

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http://dx.doi.org/10.1080/14789450.2017.1345631DOI Listing
July 2017

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Neurology 2016 Nov 26;87(21):2235-2243. Epub 2016 Oct 26.

From the Department of Cardiovascular Physiology (A.U., T.D., W.A.L.), Center for Rare Diseases Ruhr (A.U., G.D., A.G., T.D., R.K., M.T., C.H., W.A.L., S.H., M.V.), Department of Human Genetics (G.D., S.H.), Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil (A.G., R.K., M.T., M.V.), and Institute for Pediatric Radiology, Katholisches Klinikum Bochum (C.H.), Ruhr University Bochum; Klinikum Kassel (A.F.), Kassel Medical School; Institute of Neuropathology (J.W.), RWTH University Hospital Aachen; and Institute of Human Genetics (L.M.-C., M.S., B.W.), Center for Molecular Medicine and Institute for Genetics, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003360DOI Listing
November 2016

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Am J Hum Genet 2016 Nov 27;99(5):1206-1216. Epub 2016 Oct 27.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097934PMC
November 2016

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

Am J Hum Genet 2016 09 4;99(3):647-665. Epub 2016 Aug 4.

Institute of Human Genetics, University of Cologne, 50931 Cologne Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011078PMC
September 2016

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

Cell Mol Life Sci 2016 May 16;73(10):2089-104. Epub 2015 Nov 16.

Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://dx.doi.org/10.1007/s00018-015-2084-yDOI Listing
May 2016

Investigational therapies for the treatment of spinal muscular atrophy.

Expert Opin Investig Drugs 2015 24;24(7):867-81. Epub 2015 Apr 24.

University of Cologne, Institute of Human Genetics , Kerpener Str. 34, Cologne 50931 , Germany +49 221 478 86464 ; +49 221 478 86465 ;

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http://dx.doi.org/10.1517/13543784.2015.1038341DOI Listing
March 2016

Cognitive training with and without additional physical activity in healthy older adults: cognitive effects, neurobiological mechanisms, and prediction of training success.

Front Aging Neurosci 2015 13;7:187. Epub 2015 Oct 13.

Center for Neuropsychological Diagnostics and Intervention (CeNDI), Institute of Gerontology, University of Vechta Vechta, Germany ; Department of Medical Psychology, University Hospital Cologne Cologne, Germany.

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http://dx.doi.org/10.3389/fnagi.2015.00187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602086PMC
November 2015

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein.

Front Neurosci 2015 5;9:401. Epub 2015 Nov 5.

Institute of Human Genetics, Institute for Genetics and Center for Molecular Medicine of The University of Cologne Cologne, Germany.

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http://dx.doi.org/10.3389/fnins.2015.00401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633519PMC
November 2015

Tongue fasciculations in an infant with spinal muscular atrophy type 1.

Clin Case Rep 2015 Oct 2;3(10):832-4. Epub 2015 Sep 2.

Department of General Pediatrics and Neonatology, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany ; Section Neuropediatrics, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.

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http://dx.doi.org/10.1002/ccr3.359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614651PMC
October 2015

Moving towards treatments for spinal muscular atrophy: hopes and limits.

Expert Opin Emerg Drugs 2015 Sep 3;20(3):353-6. Epub 2015 Jul 3.

a 1 University of Cologne, Institute of Human Genetics, Institute for Genetics, Center for Molecular Medicine Cologne , Kerpener Street 34, 50931 Cologne, Germany +49 221 478 86464 ; +49 221 478 86465 ;

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http://dx.doi.org/10.1517/14728214.2015.1041375DOI Listing
September 2015

TRA2β controls Mypt1 exon 24 splicing in the developmental maturation of mouse mesenteric artery smooth muscle.

Am J Physiol Cell Physiol 2015 Feb 26;308(4):C289-96. Epub 2014 Nov 26.

Division of Cardiovascular Medicine, School of Medicine, University of Maryland, Baltimore, Maryland;

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http://dx.doi.org/10.1152/ajpcell.00304.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329427PMC
February 2015

Neuronal-specific deficiency of the splicing factor Tra2b causes apoptosis in neurogenic areas of the developing mouse brain.

PLoS One 2014 19;9(2):e89020. Epub 2014 Feb 19.

Institute of Human Genetics, University of Cologne, Cologne, Germany ; Institute of Genetics, University of Cologne, Cologne, Germany ; Center for Molecular Medicine, University of Cologne, Cologne, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089020PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929626PMC
January 2015

Increased levels of UCHL1 are a compensatory response to disrupted ubiquitin homeostasis in spinal muscular atrophy and do not represent a viable therapeutic target.

Neuropathol Appl Neurobiol 2014 Dec;40(7):873-87

Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK; Centre for Integrative Physiology, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1111/nan.12168DOI Listing
December 2014

SMN regulates axonal local translation via miR-183/mTOR pathway.

Hum Mol Genet 2014 Dec 4;23(23):6318-31. Epub 2014 Jul 4.

Department of Neurology, The F. M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA,

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http://dx.doi.org/10.1093/hmg/ddu350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271102PMC
December 2014

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

J Neurol Neurosurg Psychiatry 2014 May 11;85(5):590-2. Epub 2013 Dec 11.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, , Tübingen, Germany.

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http://dx.doi.org/10.1136/jnnp-2013-306777DOI Listing
May 2014

Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.

Curr Pharm Des 2013 ;19(28):5093-104

Institute of Human Genetics, University of Cologne, Germany.

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http://dx.doi.org/10.2174/13816128113199990356DOI Listing
March 2014

Splicing factor TRA2B is required for neural progenitor survival.

J Comp Neurol 2014 Feb;522(2):372-92

Department of Molecular, Cell, and Developmental Biology, University of California, Santa Cruz, California, 95064.

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http://dx.doi.org/10.1002/cne.23405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3855887PMC
February 2014

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.

Neuromuscul Disord 2014 Feb 11;24(2):156-61. Epub 2013 Nov 11.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.

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http://dx.doi.org/10.1016/j.nmd.2013.10.010DOI Listing
February 2014

Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.

Neurosci Lett 2013 Jun 10;544:100-4. Epub 2013 Apr 10.

Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1016/j.neulet.2013.03.052DOI Listing
June 2013

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.

Curr Opin Genet Dev 2013 Jun 17;23(3):330-8. Epub 2013 Apr 17.

Institute of Human Genetics, Institute for Genetics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S0959437X130004
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http://dx.doi.org/10.1016/j.gde.2013.03.003DOI Listing
June 2013

Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing.

Hum Mol Genet 2010 Jun 27;19(11):2154-67. Epub 2010 Feb 27.

Institute of Human Genetics, Center for Molecular Medicine Cologne, University of Cologne, Cologne 50931, Germany.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq094DOI Listing
June 2010

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Hum Mol Genet 2010 May 23;19(10):2005-14. Epub 2010 Feb 23.

Neurometabolic Disease Lab, Institut of Neuropathology, Institut d'Investigació Biomèdica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1093/hmg/ddq082DOI Listing
May 2010

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Hum Mol Genet 2010 Apr 22;19(8):1492-506. Epub 2010 Jan 22.

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

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http://dx.doi.org/10.1093/hmg/ddq023DOI Listing
April 2010

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

Hum Genet 2008 Mar 3;123(2):141-53. Epub 2008 Jan 3.

Institute of Human Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

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http://link.springer.com/content/pdf/10.1007/s00439-007-0455
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http://link.springer.com/10.1007/s00439-007-0455-7
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http://dx.doi.org/10.1007/s00439-007-0455-7DOI Listing
March 2008

Histone deacetylase inhibitors: possible implications for neurodegenerative disorders.

Expert Opin Investig Drugs 2008 Feb;17(2):169-84

Institute of Human Genetics, Institute of Genetics, University of Cologne, 50931 Cologne, Germany.

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http://www.tandfonline.com/doi/full/10.1517/13543784.17.2.16
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http://dx.doi.org/10.1517/13543784.17.2.169DOI Listing
February 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

Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6.

Neurobiol Dis 2007 Feb 30;25(2):401-11. Epub 2006 Nov 30.

Section for Molecular Neurogenetics, Clinic for Neurology, University Hospital, Theodor Stern Kai 7, 60590 Frankfurt/M., Germany.

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http://dx.doi.org/10.1016/j.nbd.2006.10.007DOI Listing
February 2007

Spinal muscular atrophy and therapeutic prospects.

Prog Mol Subcell Biol 2006 ;44:109-32

Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931 Cologne, Germany.

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January 2007

An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.

Genome Res 2006 Sep 9;16(9):1084-90. Epub 2006 Aug 9.

Laboratory of Comparative Medical Genetics, Department of Microbiology & Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA.

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http://dx.doi.org/10.1101/gr.5268806DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1557767PMC
September 2006

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.

Hum Genet 2006 Aug 25;120(1):101-10. Epub 2006 May 25.

Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str. 34, 50931 Cologne, Germany.

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http://link.springer.com/10.1007/s00439-006-0186-1
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http://dx.doi.org/10.1007/s00439-006-0186-1DOI Listing
August 2006

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.

Ann Neurol 2006 Jun;59(6):970-5

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

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http://dx.doi.org/10.1002/ana.20836DOI Listing
June 2006

Spinal muscular atrophy: from gene to therapy.

Semin Pediatr Neurol 2006 Jun;13(2):121-31

Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S107190910600098
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http://dx.doi.org/10.1016/j.spen.2006.06.008DOI Listing
June 2006

The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB.

Biol Chem 2006 Mar;387(3):277-84

Institute of Human Genetics, University of Cologne, D-50674 Cologne, Germany.

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http://dx.doi.org/10.1515/BC.2006.037DOI Listing
March 2006

No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.

Hum Genet 2003 Dec 25;114(1):115-7. Epub 2003 Sep 25.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-003-1022-5DOI Listing
December 2003

hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1.

Hum Mol Genet 2002 Aug;11(17):2037-49

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

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http://dx.doi.org/10.1093/hmg/11.17.2037DOI Listing
August 2002

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.

Authors:
Brunhilde Wirth

Amyotroph Lateral Scler Other Motor Neuron Disord 2002 Jun;3(2):87-95

Institute of Human Genetics, University of Bonn, Germany.

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http://www.tandfonline.com/doi/full/10.1080/1466082027601960
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http://dx.doi.org/10.1080/146608202760196057DOI Listing
June 2002

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Am J Hum Genet 2002 Feb 21;70(2):358-68. Epub 2001 Dec 21.

Institute of Human Genetics, University Clinic, Rheinische Friedrich-Wilhelms University Bonn, Bonn, Germany.

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http://dx.doi.org/10.1086/338627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC419987PMC
February 2002