{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:16:10Z","timestamp":1790943370177,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2656,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is a motor neuron disease presenting with a wide spectrum of phenotypic variations. The primary cause of most, if not all, forms of childhood\u2010onset spinal muscular atrophy appears to be the homozygous loss of the telomeric copy of the survival motor neuron (SMN<jats:sup>T<\/jats:sup>) gene. It is interesting that approximately half of all affected patients are likewise homozygous nulls for the neuronal apoptosis inhibitory protein (NAIP) gene and a somewhat lessor fraction for the basal transcription factor, p44 subunit (BTFP44) gene. It has been proposed that homozygous loss of SMN<jats:sup>T<\/jats:sup> is the primary cause of spinal muscular atrophy while the loss of NAIP and perhaps other genes primarily affects the severity of disease manifestation. We explored this hypothesis by evaluating the extent of gene deletions in three multigenerational families with spinal muscular exhibiting dramatic intrafamilial phenotypic variation. Using somatic cell hybrid lines to sequester individual spinal muscular atrophy homologues, we show that homologues missing several contiguous genes correlate with \u201csevere\u201d disease alleles and homologues missing only SMN<jats:sup>T<\/jats:sup> correlate with \u201cmild\u201d disease alleles. These observations support the hypothesis that phenotypic severity among the childhood\u2010onset spinal muscular atrophies is directly correlated with the extent of disease\u2010specific deletions.<\/jats:p>","DOI":"10.1002\/ana.410420109","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:02:27Z","timestamp":1104591747000},"page":"41-49","source":"Crossref","is-referenced-by-count":17,"title":["Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues"],"prefix":"10.1002","volume":"42","author":[{"given":"Ching H.","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd A.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamna","family":"Das","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara M.","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela K.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Conrad","family":"Gilliam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/344540a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/345823a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/344767a0"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90012-H"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1069"},{"key":"e_1_2_1_7_2","first-page":"687","article-title":"Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers","volume":"54","author":"Clermont O","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","first-page":"210","article-title":"Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy","volume":"56","author":"Brzustowicz LM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_2","first-page":"202","article-title":"Refinement of the spinal muscular atrophy locus by genetic and physical mapping","volume":"56","author":"Wang CH","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1626"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1282"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.11.1951"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90461-1"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1927"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1273"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.257"},{"key":"e_1_2_1_18_2","first-page":"A312","article-title":"Characterization of BTF2p44, a transcription factor localized to the SMA gene region","volume":"57","author":"Carter TA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","unstructured":"CarterTA BonnemannCG WangCH et al. 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