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Brunhilde Wirth

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Garbes Lutz; Riessland Markus; Hölker Irmgard; Heller Raoul; Hauke Jan; Tränkle Christian; Coras Roland; Blümcke Ingmar; Hahnen Eric; Wirth Brunhilde
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
Oprea Gabriela E; Kröber Sandra; McWhorter Michelle L; Rossoll Wilfried; Müller Stefan; Krawczak Michael; Bassell Gary J; Beattie Christine E; Wirth Brunhilde
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Brichta Lars; Garbes Lutz; Jedrzejowska Maria; Grellscheid Sushma-Nagaraja; Holker Irmgard; Zimmermann Katharina; Wirth Brunhilde
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.

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2009: Garbes Lutz; Riessland Markus; Hölker Irmgard; Heller Raoul; Hauke Jan; Tränkle Christian; Coras Roland; Blümcke Ingmar; Hahnen Eric; Wirth Brunhilde
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
Human molecular genetics 2009;18(19):3645-58.
2008: Oprea Gabriela E; Kröber Sandra; McWhorter Michelle L; Rossoll Wilfried; Müller Stefan; Krawczak Michael; Bassell Gary J; Beattie Christine E; Wirth Brunhilde
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.
Science (New York, N.Y.) 2008;320(5875):524-7.
2008: Brichta Lars; Garbes Lutz; Jedrzejowska Maria; Grellscheid Sushma-Nagaraja; Holker Irmgard; Zimmermann Katharina; Wirth Brunhilde
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Human genetics 2008;123(2):141-53.
2008: Hahnen Eric; Hauke Jan; Tränkle Christian; Eyüpoglu Ilker Y; Wirth Brunhilde; Blümcke Ingmar
Histone deacetylase inhibitors: possible implications for neurodegenerative disorders.
Expert opinion on investigational drugs 2008;17(2):169-84.
2006: Fyfe John C; Menotti-Raymond Marilyn; David Victor A; Brichta Lars; Schäffer Alejandro A; Agarwala Richa; Murphy William J; Wedemeyer William J; Gregory Brittany L; Buzzell Bethany G; Drummond Meghan C; Wirth Brunhilde; O'Brien Stephen J
An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.
Genome research 2006;16(9):1084-90.
2006: Riessland Markus; Brichta Lars; Hahnen Eric; Wirth Brunhilde
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.
Human genetics 2006;120(1):101-10.
2006: Hahnen Eric; Eyüpoglu Ilker Y; Brichta Lars; Haastert Kirsten; Tränkle Christian; Siebzehnrübl Florian A; Riessland Markus; Hölker Irmgard; Claus Peter; Romstöck Johann; Buslei Rolf; Wirth Brunhilde; Blümcke Ingmar
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy.
Journal of neurochemistry 2006;98(1):193-202.
2006: Wirth Brunhilde; Brichta Lars; Hahnen Eric
Spinal muscular atrophy: from gene to therapy.
Seminars in pediatric neurology 2006;13(2):121-31.
2006: Brichta Lars; Holker Irmgard; Haug Karsten; Klockgether Thomas; Wirth Brunhilde
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.
Annals of neurology 2006;59(6):970-5.
2006: Wirth B; Brichta L; Schrank B; Lochmüller H; Blick S; Baasner A; Heller R
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.
Human genetics 2006;119(4):422-8.
2006: Schoenen Frank; Wirth Brunhilde
The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB.
Biological chemistry 2006;387(3):277-84.
2006: Wirth Brunhilde; Brichta Lars; Hahnen Eric
Spinal muscular atrophy and therapeutic prospects.
Progress in molecular and subcellular biology 2006;44():109-32.
2005: Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Human mutation 2005;25(1):64-71.
2003: Helmken Claudia; Hofmann Yvonne; Schoenen Frank; Oprea Gabriela; Raschke Heidrun; Rudnik-Schöneborn Sabine; Zerres Klaus; Wirth Brunhilde
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.
Human genetics 2003;114(1):11-21.
2003: Schumacher Johannes; Otte Andreas C J; Becker Tim; Sun Yuli; Wienker Thomas F; Wirth Brunhilde; Franke Petra; Abou Jamra Rami; Propping Peter; Deckert Jürgen; Nöthen Markus M; Cichon Sven
No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach.
Human genetics 2003;114(1):115-7.
2003: Brichta L; Hofmann Y; Hahnen E; Siebzehnrubl F A; Raschke H; Blumcke I; Eyupoglu I Y; Wirth B
Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.
Human molecular genetics 2003;12(19):2481-9.
2002: Hofmann Yvonne; Wirth Brunhilde
hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1.
Human molecular genetics 2002;11(17):2037-49.
2002: Wirth Brunhilde
Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases 2002;3(2):87-95.
2002: Feldkötter Markus; Schwarzer Verena; Wirth Radu; Wienker Thomas F; Wirth Brunhilde
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.
American journal of human genetics 2002;70(2):358-68.
2002: Mailman Matthew D; Heinz John W; Papp Audrey C; Snyder Pamela J; Sedra Mary S; Wirth Brunhilde; Burghes Arthur H M; Prior Thomas W
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(1):20-6.
2000: Kelter A R; Herchenbach J; Wirth B
The transcription factor-like nuclear regulator (TFNR) contains a novel 55-amino-acid motif repeated nine times and maps closely to SMN1.
Genomics 2000;70(3):315-26.
2000: Helmken C; Wirth B
Exclusion of Htra2-beta1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.
Human genetics 2000;107(6):554-8.
2000: Hofmann Y; Lorson C L; Stamm S; Androphy E J; Wirth B
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2).
Proceedings of the National Academy of Sciences of the United States of America 2000;97(17):9618-23.
2000: Helmken C; Wetter A; Rudnik-Schöneborn S; Liehr T; Zerres K; Wirth B
An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
European journal of human genetics : EJHG 2000;8(7):493-9.
2000: Zat'ková A; Hahnen E; Wirth B; Kádasi L
Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.
Human heredity 2000;50(3):171-4.
2000: Wirth B
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Human mutation 2000;15(3):228-37.
1999: Endrizzi M; Huang S; Scharf J M; Kelter A R; Wirth B; Kunkel L M; Miller W; Dietrich W F
Comparative sequence analysis of the mouse and human Lgn1/SMA interval.
Genomics 1999;60(2):137-51.
1999: von Deimling F; Scharf J M; Liehr T; Rothe M; Kelter A R; Albers P; Dietrich W F; Kunkel L M; Wernert N; Wirth B
Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.
Human genetics 1999;105(1-2):17-27.
1999: Lorson C L; Hahnen E; Androphy E J; Wirth B
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6307-11.
1999: Wirth B; Herz M; Wetter A; Moskau S; Hahnen E; Rudnik-Schöneborn S; Wienker T; Zerres K
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
American journal of human genetics 1999;64(5):1340-56.
1998: Scharf J M; Endrizzi M G; Wetter A; Huang S; Thompson T G; Zerres K; Dietrich W F; Wirth B; Kunkel L M
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.
Nature genetics 1998;20(1):83-6.
1998: Lorson C L; Strasswimmer J; Yao J M; Baleja J D; Hahnen E; Wirth B; Le T; Burghes A H; Androphy E J
SMN oligomerization defect correlates with spinal muscular atrophy severity.
Nature genetics 1998;19(1):63-6.
1997: Wirth B; Schmidt T; Hahnen E; Rudnik-Schöneborn S; Krawczak M; Müller-Myhsok B; Schönling J; Zerres K
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
American journal of human genetics 1997;61(5):1102-11.
1997: Wirth B; Tessarolo D; Hahnen E; Rudnik-Schöneborn S; Raschke H; Liguori M; Giacanelli M; Zerres K
Different entities of proximal spinal muscular atrophy within one family.
Human genetics 1997;100(5-6):676-80.
1997: Zerres K; Wirth B; Rudnik-Schöneborn S
Spinal muscular atrophy--clinical and genetic correlations.
Neuromuscular disorders : NMD 1997;7(3):202-7.
1997: Hahnen E; Schönling J; Rudnik-Schöneborn S; Raschke H; Zerres K; Wirth B
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
Human molecular genetics 1997;6(5):821-5.
1996: Rudnik-Schöneborn S; Zerres K; Hahnen E; Meng G; Voit T; Hanefeld F; Wirth B
Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
American journal of human genetics 1996;59(5):1163-5.
1996: Hahnen E; Schönling J; Rudnik-Schöneborn S; Zerres K; Wirth B
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.
American journal of human genetics 1996;59(5):1057-65.
1996: Hahnen E T; Wirth B
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene.
Human genetics 1996;98(1):122-3.
1996: Rudnik-Schöneborn S; Forkert R; Hahnen E; Wirth B; Zerres K
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.
Neuropediatrics 1996;27(1):8-15.
1995: Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
Human molecular genetics 1995;4(10):1927-33.
1995: Zerres K; Rudnik-Schöneborn S; Forkert R; Wirth B
Genetic basis of adult-onset spinal muscular atrophy.
Lancet 1995;346(8983):1162.
1995: Wirth B; Hahnen E; Morgan K; DiDonato C J; Dadze A; Rudnik-Schöneborn S; Simard L R; Zerres K; Burghes A H
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.
Human molecular genetics 1995;4(8):1273-84.
1995: Wirth B; Rudnik-Schöneborn S; Hahnen E; Röhrig D; Zerres K
Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases.
Prenatal diagnosis 1995;15(5):407-17.
1995: Rudnik-Schöneborn S; Wirth B; Röhrig D; Saule H; Zerres K
Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration.
Neuromuscular disorders : NMD 1995;5(1):19-23.
1995: Wirth B; el-Agwany A; Baasner A; Burghes A; Koch A; Dadze A; Piechaczeck-Wappenschmidt B; Rudnik-Schöneborn S; Zerres K; Schönling J
Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
European journal of human genetics : EJHG 1995;3(1):56-60.
1994: DiDonato C J; Morgan K; Carpten J D; Fuerst P; Ingraham S E; Prescott G; McPherson J D; Wirth B; Zerres K; Hurko O
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
American journal of human genetics 1994;55(6):1218-29.
1994: Rudnik-Schöneborn S; Wirth B; Zerres K
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
American journal of human genetics 1994;55(1):112-9.
1994: Rudnik-Schöneborn S; Röhrig D; Morgan G; Wirth B; Zerres K
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
American journal of medical genetics 1994;51(1):70-6.
1994: Wirth B; Pick E; Leutner A; Dadze A; Voosen B; Knapp M; Piechaczek-Wappenschmidt B; Rudnik-Schöneborn S; Schönling J; Cox S
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.
Genomics 1994;20(1):84-93.
1993: Schönling J; Spurr N K; Wirth B
Twenty different alleles at the locus D5S683 on 5q23-31.
Human molecular genetics 1993;2(12):2204.
1993: Zerres K; Rudnik-Schöneborn S; Röhrig D; Wirth B
[Spinal muscular atrophy in childhood. Possibilities and limits of clinical and molecular genetic diagnosis]
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1993;141(11):848-54.
1993: Pick E; Leutner A; Spurr N K; Wirth B
Dinucleotide repeat polymorphism at the D5S214 locus.
Human molecular genetics 1993;2(10):1754.
1993: Leutner A; Schönling J; Spurr N K; Wirth B
Dinucleotide repeat polymorphism at the D12S371 locus.
Human molecular genetics 1993;2(10):1754.
1993: Wirth B; Voosen B; Röhrig D; Knapp M; Piechaczek B; Rudnik-Schöneborn S; Zerres K
Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.
Genomics 1993;15(1):113-8.
1993: Wirth B; Schönling J; el-Agwany A; Seehafer J; Rüther K; Raschke H; Leutner A; Piechaczek-Wappenschmidt B
Efficiency of various strategies and materials to generate new markers: saturating the region 5q11.2-q13.3 with 30 new randomly distributed clones.
European journal of human genetics : EJHG 1993;1(4):314-21.
1992: Rüther K; Wirth B
A new polymorphic probe on 5q11.2-13.3: ECB306Bg12.1 (D5S215).
Nucleic acids research 1992;20(5):1160.
1989: Wirth B; Gal A
XmnI polymorphism of the human STS gene.
Nucleic acids research 1989;17(8):3326.
1989: Gal A; Wirth B; Kääriäinen H; Lucotte G; Landais P; Gillessen-Kaesbach G; Müller-Wiefel D E; Zerres K
Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.
Clinical genetics 1989;35(1):13-9.
1989: Herrmann F H; Wirth B; Wulff K; Hadlich J; Voss M; Gillard E F; Kruse T A; Ferguson-Smith M A; Gal A
Gene diagnosis in X-linked ichthyosis.
Archives of dermatological research 1989;280(8):457-61.
1988: Wirth B; Herrmann F H; Neugebauer M; Gillard E F; Wulff K; Stein C; von Figura K; Ferguson-Smith M A; Gal A
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).
Human genetics 1988;80(2):191-2.
1988: Wirth B; Denton M J; Chen J D; Neugebauer M; Halliday F B; van Schooneveld M; Donald J; Bleeker-Wagemakers E M; Pearson P L; Gal A
Two different genes for X-linked retinitis pigmentosa.
Genomics 1988;2(3):263-6.
1988: Neumann H P; Zerres K; Fischer C L; Wolff G; Schaefer H E; Gal A; Wirth B; Kröpelin T; Haag K; Schollmeyer P
Late manifestation of autosomal-recessive polycystic kidney disease in two sisters.
American journal of nephrology 1988;8(3):194-7.
1987: Wirth B; Zerres K; Fischbach M; Claus D; Neumann H P; Lennert T; Brodehl J; Neugebauer M; Müller-Wiefel D E; Geisert J
Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.
Human genetics 1987;77(3):221-2.

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Brunhilde Wirth

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