{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:39:56Z","timestamp":1781080796196,"version":"3.54.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,9,23]],"date-time":"2008-09-23T00:00:00Z","timestamp":1222128000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2009,2]]},"DOI":"10.1007\/s10048-008-0148-y","type":"journal-article","created":{"date-parts":[[2008,9,22]],"date-time":"2008-09-22T16:11:53Z","timestamp":1222099913000},"source":"Crossref","is-referenced-by-count":26,"title":["Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9\u20132A&gt;T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)"],"prefix":"10.1007","volume":"10","author":[{"given":"Thilo","family":"Herzfeld","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Winter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hackstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Vater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,9,23]]},"reference":[{"key":"148_CR1","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1093\/brain\/115.2.495","volume":"115","author":"CE Pringle","year":"1992","unstructured":"Pringle CE, Hudson AJ, Munoz DG, Kiernan JA, Brown WF, Ebers GC (1992) Primary lateral sclerosis, clinical features, neuropathology and diagnostic criteria. Brain 115:144\u2013145 doi: 10.1093\/brain\/115.2.495","journal-title":"Brain"},{"key":"148_CR2","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1212\/01.WNL.0000048207.28790.25","volume":"60","author":"G Lesca","year":"2003","unstructured":"Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, di Capua M, Valente EM et al (2003) Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology 60:674\u2013682","journal-title":"Neurology"},{"key":"148_CR3","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1038\/ng1001-166","volume":"29","author":"S Hadano","year":"2001","unstructured":"Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS et al (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166\u2013173 doi: 10.1038\/ng1001-166","journal-title":"Nat Genet"},{"key":"148_CR4","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/ng1001-160","volume":"29","author":"Y Yang","year":"2001","unstructured":"Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M et al (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160\u2013165 doi: 10.1038\/ng1001-160","journal-title":"Nat Genet"},{"key":"148_CR5","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1086\/342359","volume":"71","author":"E Eymard-Pierre","year":"2002","unstructured":"Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E (2002) Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet 71:518\u2013527 doi: 10.1086\/342359","journal-title":"Am J Hum Genet"},{"key":"148_CR6","doi-asserted-by":"publisher","unstructured":"Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, M\u00fcller U (2008) Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. Eur J Hum Genet doi: 10.1038\/ejhg.2008.108","DOI":"10.1038\/ejhg.2008.108"},{"key":"148_CR7","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1111\/j.1399-0004.2008.00993.x","volume":"73","author":"L Sztriha","year":"2008","unstructured":"Sztriha L, Panzeri C, K\u00e1lm\u00e1nchey R, Szab\u00f3 N, Endreffy E, T\u00fari S et al (2008) First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement. Clin Genet 73:591\u2013593","journal-title":"Clin Genet"},{"key":"148_CR8","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.1093\/hmg\/ddg184","volume":"12","author":"A Otomo","year":"2003","unstructured":"Otomo A, Hadano S, Okada T, Mizumura H, Kunita R, Nishijima H et al (2003) ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 12:1671\u20131687 doi: 10.1093\/hmg\/ddg184","journal-title":"Hum Mol Genet"},{"key":"148_CR9","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1016\/j.neuint.2007.04.010","volume":"51","author":"S Hadano","year":"2007","unstructured":"Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE (2007) Molecular and cellular function of ALS2\/alsin: implication of membrane dynamics in neuronal development and degeneration. Neurochem Int 51:74\u201384 doi: 10.1016\/j.neuint.2007.04.010","journal-title":"Neurochem Int"},{"key":"148_CR10","doi-asserted-by":"publisher","first-page":"1566","DOI":"10.1001\/archopht.120.11.1566","volume":"120","author":"C Rivolta","year":"2002","unstructured":"Rivolta C, Berson EL, Dryja TP (2002) Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol 120:1566\u20131571","journal-title":"Arch Ophthalmol"},{"key":"148_CR11","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1002\/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U","volume":"16","author":"AL Webb","year":"1996","unstructured":"Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J (1996) Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 16:958\u2013962 doi: 10.1002\/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U","journal-title":"Prenat Diagn"},{"key":"148_CR12","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1002\/(SICI)1097-0223(199705)17:5<443::AID-PD82>3.0.CO;2-2","volume":"17","author":"WF Hansen","year":"1997","unstructured":"Hansen WF, Bernard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS et al (1997) Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 17:443\u2013450 doi: 10.1002\/(SICI)1097-0223(199705)17:5<443::AID-PD82>3.0.CO;2-2","journal-title":"Prenat Diagn"},{"key":"148_CR13","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1038\/sj.ejhg.5201342","volume":"13","author":"FM Petit","year":"2005","unstructured":"Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A (2005) Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. Eur J Hum Genet 13:278\u2013282 doi: 10.1038\/sj.ejhg.5201342","journal-title":"Eur J Hum Genet"},{"key":"148_CR14","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1086\/338455","volume":"70","author":"DA Thompson","year":"2002","unstructured":"Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E et al (2002) Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 of MERTK, respectively. Am J Hum Genet 70:224\u2013229 doi: 10.1086\/338455","journal-title":"Am J Hum Genet"},{"key":"148_CR15","doi-asserted-by":"publisher","first-page":"3147","DOI":"10.1210\/jc.85.9.3147","volume":"85","author":"B Ch\u00e1vez","year":"2008","unstructured":"Ch\u00e1vez B, Valdez E, Vilchis F (2008) Uniparental disomy in steroid 5\u03b1-reductase 2 deficiency. J Clin Endocrinol Metab 85:3147\u20133150 doi: 10.1210\/jc.85.9.3147","journal-title":"J Clin Endocrinol Metab"},{"key":"148_CR16","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/humu.10142","volume":"20","author":"U Spiekerkoetter","year":"2002","unstructured":"Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M (2002) Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due tu homozygous \u03b1-subunit mutations. Hum Mutat 20:447\u2013451 doi: 10.1002\/humu.10142","journal-title":"Hum Mutat"},{"key":"148_CR17","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<260::AID-AJMG7>3.0.CO;2-#","volume":"92","author":"E Heide","year":"2000","unstructured":"Heide E, Heide KG, Rodewald A (2000) Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. Am J Med Genet 92:260\u2013263 doi: 10.1002\/(SICI)1096-8628(20000605)92:4 <260::AID-AJMG7>3.0.CO;2-#","journal-title":"Am J Med Genet"},{"key":"148_CR18","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1034\/j.1399-0004.2000.580304.x","volume":"58","author":"D Kotzot","year":"2000","unstructured":"Kotzot D, Lurie I, M\u00e9hes K, Werder E, Schinzel A (2000) No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation. Clin Genet 58:177\u2013180 doi: 10.1034\/j.1399-0004.2000.580304.x","journal-title":"Clin Genet"},{"key":"148_CR19","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1101\/gr.6584707","volume":"17","author":"PP Luedi","year":"2007","unstructured":"Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ (2007) Computational and experimental identification of novel human imprinted genes. Genome Res 17:1723\u20131730 doi: 10.1101\/gr.6584707","journal-title":"Genome Res"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0148-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-008-0148-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-008-0148-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T08:02:33Z","timestamp":1559116953000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-008-0148-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,23]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["148"],"URL":"https:\/\/doi.org\/10.1007\/s10048-008-0148-y","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,23]]},"article-number":"59"}}