| A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy CL Lorson, E Hahnen, EJ Androphy, B Wirth Proceedings of the National Academy of Sciences 96 (11), 6307-6311, 1999 | 1766 | 1999 |
| 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 M Feldkötter, V Schwarzer, R Wirth, TF Wienker, B Wirth The American Journal of Human Genetics 70 (2), 358-368, 2002 | 1158 | 2002 |
| Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 912 | 2018 |
| An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) B Wirth Human mutation 15 (3), 228-237, 2000 | 803 | 2000 |
| Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ... Neuromuscular Disorders 28 (3), 197-207, 2018 | 623 | 2018 |
| SMN oligomerization defect correlates with spinal muscular atrophy severity CL Lorson, J Strasswimmer, JM Yao, JD Baleja, E Hahnen, B Wirth, T Le, ... Nature genetics 19 (1), 63-66, 1998 | 619 | 1998 |
| Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy GE Oprea, S Kröber, ML McWhorter, W Rossoll, S Müller, M Krawczak, ... Science 320 (5875), 524-527, 2008 | 611 | 2008 |
| Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy L Brichta, Y Hofmann, E Hahnen, FA Siebzehnrubl, H Raschke, I Blumcke, ... Human molecular genetics 12 (19), 2481-2489, 2003 | 519 | 2003 |
| Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and … B Wirth, M Herz, A Wetter, S Moskau, E Hahnen, S Rudnik-Schöneborn, ... The American Journal of Human Genetics 64 (5), 1340-1356, 1999 | 456 | 1999 |
| Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 MD Mailman, JW Heinz, AC Papp, PJ Snyder, MS Sedra, B Wirth, ... Genetics in Medicine 4 (1), 20-26, 2002 | 436 | 2002 |
| Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2) Y Hofmann, CL Lorson, S Stamm, EJ Androphy, B Wirth Proceedings of the National Academy of Sciences 97 (17), 9618-9623, 2000 | 413 | 2000 |
| Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ... The American Journal of Human Genetics 88 (3), 362-371, 2011 | 408 | 2011 |
| Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number B Wirth, L Brichta, B Schrank, H Lochmüller, S Blick, A Baasner, R Heller Human genetics 119, 422-428, 2006 | 390 | 2006 |
| 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 E Hahnen, R Forkert, C Marke, S Rudnik-Schöneborn, J Schönling, ... Human molecular genetics 4 (10), 1927-1933, 1995 | 349 | 1995 |
| Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen K Zerres, G Mücher, L Bachner, G Deschennes, T Eggermann, ... Nature genetics 7 (3), 429-432, 1994 | 305 | 1994 |
| A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus O Semler, L Garbes, K Keupp, D Swan, K Zimmermann, J Becker, S Iden, ... The American Journal of Human Genetics 91 (2), 349-357, 2012 | 301 | 2012 |
| SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy M Riessland, B Ackermann, A Förster, M Jakubik, J Hauke, L Garbes, ... Human molecular genetics 19 (8), 1492-1506, 2010 | 263 | 2010 |
| Histone deacetylase inhibitors: possible implications for neurodegenerative disorders E Hahnen, J Hauke, C Tränkle, IY Eyüpoglu, B Wirth, I Blümcke Expert opinion on investigational drugs 17 (2), 169-184, 2008 | 254 | 2008 |
| hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1 Y Hofmann, B Wirth Human molecular genetics 11 (17), 2037-2049, 2002 | 251 | 2002 |
| Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6 HH Hoepken, S Gispert, B Morales, O Wingerter, D Del Turco, A Mülsch, ... Neurobiology of disease 25 (2), 401-411, 2007 | 248 | 2007 |
Markus RiesslandStony Brook University在 stonybrook.edu 的电子邮件经过验证
