| 1 | CORO1C, PLS3, SMA, TMOD3
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| The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
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| Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.
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| Am J Hum Genet 99(3):647-65. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4.
2016
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| 2 | NAIP, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
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| Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.
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| Eur J Paediatr Neurol 16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6.
2012
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| 3 | SMA
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| Genetic therapy for the nervous system.
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| Bowers WJ, Breakefield XO, Sena-Esteves M.
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| Hum Mol Genet 20(R1):R28-41. Epub 2011 Mar 23. Review. 2011
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| 4 | SMA, SMN1
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| A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
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| Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P.
|
| Hum Mutat um Mutat. 2011 May 3. doi: 10.1002/humu.21528. [Epub ahead of print]
2011
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| 5 | PFN2, ROCK1, SMA, SMN1
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| The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
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| Nölle A, Zeug A, van Bergeijk J, Tönges L, Gerhard R, Brinkmann H, Al Rayes S, Hensel N, Schill Y, Apkhazava D, Jablonka S, O'mer J, Srivastav RK, Baasner A, Lingor P, Wirth B, Ponimaskin E, Niedenthal R, Grothe C, Claus P.
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| Hum Mol Genet 20(24):4865-78. doi: 10.1093/hmg/ddr425. Epub 2011 Sep 14.
2011
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| 6 | SMA, STMN1
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| Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy.
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| Wen HL, Lin YT, Ting CH, Lin-Chao S, Li H, Hsieh-Li HM.
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| Hum Mol Genet 19(9):1766-78. Epub 2010 Feb 22. 2010
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| 7 | SMA, SMN
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| Cardiac defects contribute to the pathology of spinal muscular atrophy models.
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| Shababi M, Habibi J, Yang HT, Vale SM, Sewell WA, Lorson CL.
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| Hum Mol Genet 19(20):4059-71. Epub 2010 Aug 9.
2010
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| 8 | SMA, SMN2
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| Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.
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| Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E.
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| Hum Mol Genet 18(2):304-17. Epub 2008 Oct 29.
2009
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| 9 | SMA, SMN2
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| A positive modifier of spinal muscular atrophy in the SMN2 gene.
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| Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.
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| Am J Hum Genet 85(3):408-13. Epub 2009 Aug 27.
2009
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| 10 | SMA, SMN1, SMN2
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| Unaffected patients with a homozygous absence of the SMN1 gene.
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| Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
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| Eur J Hum Genet 16(8):930-4. Epub 2008 Mar 12.
2008
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| 11 | KHSRP, SMA, SMN1
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| KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
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| Tadesse H, Deschnes-Furry J, Boisvenue S, C™tŽ J.
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| Hum Mol Genet 17(4):506-24. Epub 2007 Nov 12. 2008
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| 12 | SMA, SMN1
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| Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
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| Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.
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| Hum Genet 123(2):141-53. Epub 2008 Jan 3. 2008
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| 13 | SMN1, SMA
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| Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
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| Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM.
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| Am J Med Genet A 146(6):740-4. Review. 2008
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| 14 | SMA, SMN1, SMN2
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| Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
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| Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.
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| J Med Genet 45(10):635-8. Epub 2008 Jul 28.
2008
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| 15 | ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Spinal muscular atrophy diagnostics.
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| Prior TW.
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| J Child Neurol 22(8):952-6. Review. 2007
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| 16 | ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
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| Spinal muscular atrophy: clinical classification and disease heterogeneity.
|
| Russman BS.
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| J Child Neurol 22(8):946-51. Review. 2007
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| 17 | NAIP, SMA, SMN1
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| Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.
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| Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.
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| Ann Acad Med Singapore 36(11):937-41.
2007
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| 18 | SMN1, SMN2, SMA
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| Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2.
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| Cartegni L, Hastings ML, Calarco JA, Stanchina E, Krainer AR.
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| Am J Hum Genet 78(1):63-77. Epub 2005 Nov 16. 2006
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| 19 | SMA, SMN1, ZPR1
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| Deficiency of the zinc finger protein ZPR1 causes neurodegeneration.
|
| Doran B, Gherbesi N, Hendricks G, Flavell RA, Davis RJ, Gangwani L.
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| Proc Natl Acad Sci U S A 103(19):7471-5. Epub 2006 Apr 28. 2006
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| 20 | SMA, SMN1
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| Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
|
| Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schoneborn S.
|
| Eur J Hum Genet 13(3):309-13. 2005
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| 21 | SMA
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| Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord.
|
| Soler-Botija C, Ferrer I, Gich I, Baiget M, Tizzano EF.
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| Brain 125(Pt 7):1624-34. 2002
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| 22 | SMA, SMN1
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| Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
|
| Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.
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| Eur J Hum Genet 9(2):113-20. 2001
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| 23 | SMA, SMN1
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| Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
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| Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW.
|
| Hum Genet 108(2):109-15. 2001
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| 24 | SMA, SMN2
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| SMN2-deletion in childhood-onset spinal muscular atrophy.
|
| Srivastava S, Mukherjee M, Panigrahi I, Shanker Pandey G, Pradhan S, Mittal B.
|
| Am J Med Genet 101(3):198-202. 2001
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| 25 | SMA
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| An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy.
|
| Wirth B.
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| Hum Mutat 15(3):228-37. 2000
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| 26 | SMA, SMN1
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| The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
|
| Young PJ, Man NT, Lorson CL, Le TT, Androphy EJ, Burghes AH, Morris GE.
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| Hum Mol Genet 9(19):2869-77. 2000
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| 27 | SMA, SMN1
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| SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.
|
| Pellizzoni L, et al.
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| Proc Natl Acad Sci U S A 96(20):11167-72 1999
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| 28 | SMA
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| Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.
|
| Campbell L, et al.
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| Am J Hum Genet 63 : 37-44. 1998
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| 29 | SMA, SMN1
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| The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.
|
| Burlet P, et al.
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| Hum Mol Genet 7 : 1927-1933. 1998
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| 30 | SMA, SMN2
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| Differential SMN2 expression associated with SMA severity.
|
| Gavrilov DK, et al.
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| Nat Genet 20 : 230-231. 1998
|
| 31 | SMA, SMN1
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| Intragenic telSMN mutations : frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
|
| Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.
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| Am J Hum Genet 63 : 1712-1723. 1998
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| 32 | GTF2H2, SMA
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| The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.
|
| BŸrglen L, et al.
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| Am J Hum Genet 60 : 72-79. 1997
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| 33 | SMA, SMN1
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| De novo deletions in spinal muscular atrophy : implications for genetic counselling.
|
| Raclin V, et al.
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| J Med Genet 34 : 86-87. 1997
|
| 34 | SMA, SMN2, SMN1
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| Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.
|
| Schwartz M, et al.
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| Hum Mol Genet 6 : 99-104. 1997
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| 35 | SMA, SMN1
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| Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
|
| Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, Wirth B.
|
| Hum Mol Genet 6(5):821-5. 1997
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| 36 | DSMAVA, SMA
|
| Proximal and distal spinal muscular atrophy in one family : molecular genetic studies provide further evidence for the non-allelic origin of both diseases.
|
| Spranger S, et al.
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| J Med Genet 34 : 340-342. 1997
|
| 37 | SMA, SMN1, SMN2
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| Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
|
| McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH.
|
| Am J Hum Genet 60(6):1411-22. 1997
|
| 38 | NAIP, SMA, SMN1
|
| A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
|
| Novelli G, et al.
|
| Neurogenetics 1 : 29-30. 1997
|
| 39 | SMA, SMN1
|
| The survival motor neuron protein in spinal muscular atrophy.
|
| Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH.
|
| Hum Mol Genet 6(8):1205-14. 1997
|
| 40 | SMA, SMN1
|
| Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.
|
| Wang CH, Carter TA, Das K, Xu J, Ross BM, Penchaszadeh GK, Gilliam TC.
|
| Ann Neurol 42(1):41-9. 1997
|
| 41 | NAIP, SMA, SMN1
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| SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.
|
| Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M.
|
| Am J Med Genet 72(1):51-8. 1997
|
| 42 | NAIP, SMA, SMN1
|
| Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents.
|
| Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang TY, Chang CP, Wang WS.
|
| Hum Genet 100(5-6):577-81 1997
|
| 43 | SMA, SMN1
|
| Different entities of proximal spinal muscular atrophy within one family.
|
| Wirth B, Tessarolo D, Hahnen E, Rudnik-Schoneborn S, Raschke H, Liguori M, Giacanelli M, Zerres K.
|
| Hum Genet 100(5-6):676-80. 1997
|
| 44 | NAIP, SMA, SMN1
|
| De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.
|
| Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling J, Zerres K.
|
| Am J Hum Genet 61(5):1102-11. 1997
|
| 45 | SMA, SMN2, SMN1
|
| Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.
|
| Zappata S, et al.
|
| Hum Genet 97 : 315-318. 1996
|
| 46 | SMA, SMN2, SMN1
|
| Gene deletions in spinal muscular atrophy.
|
| Rodrigues NR, et al.
|
| J Med Genet 33 : 93-96. 1996
|
| 47 | SMA, SMN2, SMN1
|
| Characterization of survival motor neuron (SMN T) gene deletions in asymptomatic carriers of spinal muscular atrophy.
|
| Wang CH, et al.
|
| Hum Mol Genet 5 : 359-365. 1996
|
| 48 | D5F149S1, D5F149S2, D5F150S1, D5F150S2, SMA, SMN1, SMN2
|
| Structure and organization of the human survival motor neurone (SMN) gene.
|
| Burglen L, et al.
|
| Genomics 32 : 479-482. 1996
|
| 49 | SMA, SMN2, SMN1
|
| Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
|
| Capon F, et al.
|
| Hum Mutat 7 : 198-201. 1996
|
| 50 | SMA, SMN2, SMN1
|
| Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
|
| Burlet P, et al.
|
| J Med Genet 33 : 281-283. 1996
|
| 51 | SMA, SMN2, SMN1
|
| Unusual molecular findings in autosomal recessive spinal muscular atrophy.
|
| Matthijs G, et al.
|
| J Med Genet 33 : 469-474. 1996
|
| 52 | SMA, SMN2, SMN1
|
| A novel nuclear structure containing the survival of motor neurons protein.
|
| Liu Q, et al.
|
| EMBO J 15 : 3555-3565. 1996
|
| 53 | SMA
|
| Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
|
| BŸrglen L, et al.
|
| J Clin Invest 98 : 1130-1132. 1996
|
| 54 | NAIP, SMA, SMN1, SMN2
|
| Molecular analysis of SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.
|
| Velasco E, et al.
|
| Hum Mol Genet 5 : 257-263. 1996
|
| 55 | SMA, SMN2, SMN1
|
| Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations.
|
| Rudnik-Schšneborn S, et al.
|
| Am J Hum Genet 59 : 1163-1165. 1996
|
| 56 | SMA, SMN2, SMN1
|
| Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy : new insights into molecular mechanisms responsible for the disease.
|
| Hahnen E, et al.
|
| Am J Hum Genet 59 : 1057-1065. 1996
|
| 57 | SMA, SMN1
|
| An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype : further evidence for SMN as the primary SMA-determining gene.
|
| Parsons DW, et al.
|
| Hum Mol Genet 5 : 1727-1732. 1996
|
| 58 | SMA, SMN1
|
| Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.
|
| Brahe C, et al.
|
| Hum Mol Genet 5 : 1971-1976. 1996
|
| 59 | SMA, SMN1
|
| Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
|
| Talbot K, et al.
|
| J Med Genet 33 : 1019-1021. 1996
|
| 60 | SMA, SMN2, SMN1
|
| Clinical and molecular genetic features of congenital spinal muscular atrophy.
|
| Devriendt K, et al.
|
| Ann Neurol 40 : 731-738. 1996
|
| 61 | SMA, SMN2, SMN1
|
| FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13.
|
| Rajcan-Separovic E, et al.
|
| Cytogenet Cell Genet 75 : 243-247. 1996
|
| 62 | NAIP, SMA
|
| The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.
|
| Roy N, et al.
|
| Cell 80 : 167-178. 1995
|
| 63 | SMA
|
| Refinement of the spinal muscular atrophy locus by genetic and physical mapping.
|
| Wang CH, et al.
|
| Am J Hum Genet 56 : 202-209. 1995
|
| 64 | SMA
|
| SMA genes : deleted and duplicated.
|
| Mahadevan MS, et al.
|
| Nat Genet 9 : 112-113. 1995
|
| 65 | SMA, SMN2, SMN1
|
| Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
|
| Cobben JM, et al.
|
| Am J Hum Genet 57 : 805-808. 1995
|
| 66 | SMA, SMN2, SMN1
|
| 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.
|
| Hahnen E, Forkert R, Marke C, Rudnik-Schoneborn S, Schonling J, Zerres K, Wirth B.
|
| Hum Mol Genet 4(10):1927-33. 1995
|
| 67 | SMA, SMN2, SMN1
|
| A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
|
| Bussaglia E, et al.
|
| Nat Genet 11 : 335-337. 1995
|
| 68 | SMA
|
| A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.
|
| van der Steege G, et al.
|
| Hum Genet 96 : 589-591. 1995
|
| 69 | SMA, SMN2, SMN1
|
| Molecular basis of spinal muscular atrophy in Chinese.
|
| Chang JG, et al.
|
| Am J Hum Genet 57 : 1503-1505. 1995
|
| 70 | SMA, SMN2, SMN1
|
| SMN gene deletions in adult-onset spinal muscular atrophy.
|
| Clermont O, et al.
|
| Lancet 346 : 1712-1713. 1995
|
| 71 | SMA
|
| Genomic rearrangements in childhood spinal muscular atrophy : linkage disequilibrium with a null allele.
|
| Daniels RJ, et al.
|
| J Med Genet 32 : 93-96. 1995
|
| 72 | SMA
|
| Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
|
| Novelli G, et al.
|
| J Med Genet 32 : 216-219. 1995
|
| 73 | SMA, SMN2, SMN1
|
| Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.
|
| Rodrigues NR, et al.
|
| Hum Mol Genet 4 : 631-634. 1995
|
| 74 | SMA
|
| Refined physical map of the spinal muscular atrophy gene (SMA) region at5q13 based on YAC and cosmid contiguous arrays.
|
| Roy N, et al.
|
| Genomics 26 : 451-460. 1995
|
| 75 | SMA
|
| Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.
|
| Francis MJ, et al.
|
| Genomics 27 : 366-369. 1995
|
| 76 | SMA
|
| Allelic association and deletions in autosomal recessive proximal spinalmuscular atrophy : association of marker genotype with disease severity and candidate cDNAs.
|
| Wirth B, et al.
|
| Hum Mol Genet 4 : 1273-1284. 1995
|
| 77 | SMA
|
| Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene.
|
| Huschenbett J, et al.
|
| Hum Genet 96 : 335-338. 1995
|
| 78 | SMA
|
| A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.
|
| Yaraghi Z, et al.
|
| Hum Genet 96 : 330-334. 1995
|
| 79 | SMA
|
| Mapping of the spinal muscular atrophy (SMA) gene to a 750-kb interval flanked by two new microsatellites.
|
| Wirth B, et al.
|
| Eur J Hum Genet 3 : 56-60. 1995
|
| 80 | SMA
|
| Isolation of microsatellites from the spinal muscular atrophy (SMA) candidate region on chromosome 5q and linkage analysis in Spanish SMA families.
|
| Velasco E, et al.
|
| Eur J Hum Genet 3 : 96-101. 1995
|
| 81 | SMA
|
| A novel cDNA detects homozygous microdeletions in greater than 50 % of type I spinal muscular atrophy patients.
|
| Thompson TG, et al.
|
| Nat Genet 9 : 56-62. 1995
|
| 82 | SMA
|
| Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
|
| Brzustowicz LM, et al.
|
| Am J Hum Genet 56 : 210-215. 1995
|
| 83 | SMA, GTF2H2
|
| A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
|
| van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velona I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ, et al.
|
| Eur J Hum Genet 3(2):87-95. 1995
|
| 84 | SMA, SMN2, SMN1
|
| Identification and characterization of a spinal muscular atrophy-determining gene.
|
| Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L,Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.
|
| Cell 80(1):155-65. 1995
|
| 85 | SMA, SMA3, SMA4, SMN1, SMN2
|
| Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.
|
| Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G.
|
| Lancet 346(8977):741-2. 1995
|
| 86 | SMA
|
| Linkage mapping of the spinal muscular atrophy gene.
|
| Burghes AHM, et al.
|
| Hum Genet 93 : 305-312. 1994
|
| 87 | SMA
|
| Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population.
|
| Simard LR, et al.
|
| Hum Mol Genet 3 : 459-463. 1994
|
| 88 | SMA
|
| Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
|
| Brzustowicz LM, et al.
|
| Am J Hum Genet 54 : 482-488. 1994
|
| 89 | SMA
|
| 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.
|
| Wirth B, et al.
|
| Genomics 20 : 84-93. 1994
|
| 90 | SMA
|
| Apparent SMA I unlinked to 5q.
|
| Cobben JM, et al.
|
| J Med Genet 31 : 242-244. 1994
|
| 91 | SMA
|
| Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.
|
| Brahe C, et al.
|
| Hum Genet 93 : 494-501; 1994
|
| 92 | SMA
|
| Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
|
| Clermont O, et al.
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| 98 | SMA
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| 105 | SMA
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| 106 | SMA
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| 108 | SMA
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| A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
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| 111 | SMA
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| Paternal isodisomy for chromosome 5 in a child affected with spinal muscular atrophy.
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| 112 | SMA
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| Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.
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| 113 | SMA
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| 114 | SMA
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| 115 | SMA
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| 116 | SMA
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| 117 | SMA
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| 119 | SMA
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| Genomics 14 : 188-190. 1992
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| 120 | SMA
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| Am J Hum Genet 51 : A242. 1992
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| 121 | SMA
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| Physical map around the spinal muscular atrophy gene using yeast artificial chromosomes.
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| Am J Hum Genet 51 : A242. 1992
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| 122 | SMA
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| 125 | SMA
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| 130 | SMA
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| No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.
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| 131 | SMA
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| Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.
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| Nature 344 : 767-768. 1990
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| 132 | SMA
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| Neurology 40 : 1831-1836. 1990
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| 133 | SMA
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| Nature 345 : 823-825. 1990
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| Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
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| Nature 344 : 540-541. 1990
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| 135 | SMA
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| Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14.
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| Lancet 336 : 271-273. 1990
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| 136 | SMA
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| 137 | SMA
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| Mapping of acute spinal muscular atrophy in inbred families.
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