Citations for
1CORO1C, PLS3, SMA, TMOD3
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
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.
Am J Hum Genet 99(3):647-65. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4. 2016
2NAIP, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
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.
Eur J Paediatr Neurol 16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6. 2012
3SMA
Genetic therapy for the nervous system.
Bowers WJ, Breakefield XO, Sena-Esteves M.
Hum Mol Genet 20(R1):R28-41. Epub 2011 Mar 23. Review. 2011
4SMA, SMN1
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.
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
5PFN2, ROCK1, SMA, SMN1
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.
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.
Hum Mol Genet 20(24):4865-78. doi: 10.1093/hmg/ddr425. Epub 2011 Sep 14. 2011
6SMA, STMN1
Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy.
Wen HL, Lin YT, Ting CH, Lin-Chao S, Li H, Hsieh-Li HM.
Hum Mol Genet 19(9):1766-78. Epub 2010 Feb 22. 2010
7SMA, SMN
Cardiac defects contribute to the pathology of spinal muscular atrophy models.
Shababi M, Habibi J, Yang HT, Vale SM, Sewell WA, Lorson CL.
Hum Mol Genet 19(20):4059-71. Epub 2010 Aug 9. 2010
8SMA, SMN2
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.
Hauke J, Riessland M, Lunke S, Eyüpoglu IY, Blümcke I, El-Osta A, Wirth B, Hahnen E.
Hum Mol Genet 18(2):304-17. Epub 2008 Oct 29. 2009
9SMA, SMN2
A positive modifier of spinal muscular atrophy in the SMN2 gene.
Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT.
Am J Hum Genet 85(3):408-13. Epub 2009 Aug 27. 2009
10SMA, SMN1, SMN2
Unaffected patients with a homozygous absence of the SMN1 gene.
Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszczyk A, Milewski M, Jurek M, Sielska D, Kostyk E, Nyka W, Zaremba J, Hausmanowa-Petrusewicz I.
Eur J Hum Genet 16(8):930-4. Epub 2008 Mar 12. 2008
11KHSRP, SMA, SMN1
KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy.
Tadesse H, Deschnes-Furry J, Boisvenue S, C™tŽ J.
Hum Mol Genet 17(4):506-24. Epub 2007 Nov 12. 2008
12SMA, SMN1
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Brichta L, Garbes L, Jedrzejowska M, Grellscheid SN, Holker I, Zimmermann K, Wirth B.
Hum Genet 123(2):141-53. Epub 2008 Jan 3. 2008
13SMN1, SMA
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM.
Am J Med Genet A 146(6):740-4. Review. 2008
14SMA, SMN1, SMN2
Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K.
J Med Genet 45(10):635-8. Epub 2008 Jul 28. 2008
15ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Spinal muscular atrophy diagnostics.
Prior TW.
J Child Neurol 22(8):952-6. Review. 2007
16ACMN, SMA, SMA2, SMA3, SMA4, SMN1, SMN2
Spinal muscular atrophy: clinical classification and disease heterogeneity.
Russman BS.
J Child Neurol 22(8):946-51. Review. 2007
17NAIP, SMA, SMN1
Molecular analysis of the SMN1 and NAIP genes in Iranian patients with spinal muscular atrophy.
Derakhshandeh-Peykar P, Esmaili M, Ousati-Ashtiani Z, Rahmani M, Babrzadeh F, Farshidi S, Attaran E, Sajedifar MM, Farhud DD.
Ann Acad Med Singapore 36(11):937-41. 2007
18SMN1, SMN2, SMA
Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2.
Cartegni L, Hastings ML, Calarco JA, Stanchina E, Krainer AR.
Am J Hum Genet 78(1):63-77. Epub 2005 Nov 16. 2006
19SMA, SMN1, ZPR1
Deficiency of the zinc finger protein ZPR1 causes neurodegeneration.
Doran B, Gherbesi N, Hendricks G, Flavell RA, Davis RJ, Gangwani L.
Proc Natl Acad Sci U S A 103(19):7471-5. Epub 2006 Apr 28. 2006
20SMA, SMN1
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
21SMA
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.
Brain 125(Pt 7):1624-34. 2002
22SMA, SMN1
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.
Eur J Hum Genet 9(2):113-20. 2001
23SMA, SMN1
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
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
24SMA, SMN2
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
25SMA
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy.
Wirth B.
Hum Mutat 15(3):228-37. 2000
26SMA, SMN1
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.
Hum Mol Genet 9(19):2869-77. 2000
27SMA, SMN1
SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.
Pellizzoni L, et al.
Proc Natl Acad Sci U S A 96(20):11167-72 1999
28SMA
Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.
Campbell L, et al.
Am J Hum Genet 63 : 37-44. 1998
29SMA, SMN1
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.
Burlet P, et al.
Hum Mol Genet 7 : 1927-1933. 1998
30SMA, SMN2
Differential SMN2 expression associated with SMA severity.
Gavrilov DK, et al.
Nat Genet 20 : 230-231. 1998
31SMA, SMN1
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.
Am J Hum Genet 63 : 1712-1723. 1998
32GTF2H2, SMA
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.
Am J Hum Genet 60 : 72-79. 1997
33SMA, SMN1
De novo deletions in spinal muscular atrophy : implications for genetic counselling.
Raclin V, et al.
J Med Genet 34 : 86-87. 1997
34SMA, SMN2, SMN1
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.
Hum Mol Genet 6 : 99-104. 1997
35SMA, SMN1
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
36DSMAVA, 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.
J Med Genet 34 : 340-342. 1997
37SMA, SMN1, SMN2
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
38NAIP, 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
39SMA, 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
40SMA, 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
41NAIP, SMA, SMN1
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
42NAIP, 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
43SMA, 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
44NAIP, 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
45SMA, 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
46SMA, SMN2, SMN1
Gene deletions in spinal muscular atrophy.
Rodrigues NR, et al.
J Med Genet 33 : 93-96. 1996
47SMA, 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
48D5F149S1, 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
49SMA, 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
50SMA, 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
51SMA, SMN2, SMN1
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
Matthijs G, et al.
J Med Genet 33 : 469-474. 1996
52SMA, SMN2, SMN1
A novel nuclear structure containing the survival of motor neurons protein.
Liu Q, et al.
EMBO J 15 : 3555-3565. 1996
53SMA
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
54NAIP, 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
55SMA, 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
56SMA, 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
57SMA, 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
58SMA, 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
59SMA, 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
60SMA, SMN2, SMN1
Clinical and molecular genetic features of congenital spinal muscular atrophy.
Devriendt K, et al.
Ann Neurol 40 : 731-738. 1996
61SMA, 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
62NAIP, 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
63SMA
Refinement of the spinal muscular atrophy locus by genetic and physical mapping.
Wang CH, et al.
Am J Hum Genet 56 : 202-209. 1995
64SMA
SMA genes : deleted and duplicated.
Mahadevan MS, et al.
Nat Genet 9 : 112-113. 1995
65SMA, 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
66SMA, 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
67SMA, 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
68SMA
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
69SMA, SMN2, SMN1
Molecular basis of spinal muscular atrophy in Chinese.
Chang JG, et al.
Am J Hum Genet 57 : 1503-1505. 1995
70SMA, SMN2, SMN1
SMN gene deletions in adult-onset spinal muscular atrophy.
Clermont O, et al.
Lancet 346 : 1712-1713. 1995
71SMA
Genomic rearrangements in childhood spinal muscular atrophy : linkage disequilibrium with a null allele.
Daniels RJ, et al.
J Med Genet 32 : 93-96. 1995
72SMA
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
Novelli G, et al.
J Med Genet 32 : 216-219. 1995
73SMA, 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
74SMA
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
75SMA
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
76SMA
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
77SMA
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
78SMA
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
79SMA
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
80SMA
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
81SMA
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
82SMA
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
Brzustowicz LM, et al.
Am J Hum Genet 56 : 210-215. 1995
83SMA, 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
84SMA, 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
85SMA, 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
86SMA
Linkage mapping of the spinal muscular atrophy gene.
Burghes AHM, et al.
Hum Genet 93 : 305-312. 1994
87SMA
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
88SMA
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.
Brzustowicz LM, et al.
Am J Hum Genet 54 : 482-488. 1994
89SMA
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
90SMA
Apparent SMA I unlinked to 5q.
Cobben JM, et al.
J Med Genet 31 : 242-244. 1994
91SMA
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
92SMA
Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.
Clermont O, et al.
Am J Hum Genet 54 : 687-694. 1994
93SMA
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.
MŽrette C, et al.
Genomics 21 : 27-33. 1994
94SMA, SMN1, SMN2, D5F149S1, D5F149S2, D5F150S1, D5F150S2
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Melki J, et al.
Science 264 : 1474-1477. 1994
95SMA
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.
Burghes AHM, et al.
Genomics 21 : 394-402. 1994
96SMA
Identification of key recombinants in multiplex SMA families.
van der Steege G, et al.
Genomics 22 : 219-222. 1994
97SMA
Genetic heterogeneity in spinal muscular atrophy : a linkage analysis-based assessment.
MacKenzie AE, et al.
Neurology 44 : 919-924. 1994
98SMA
Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.
McLean MD, Roy N, MacKenzie AE, Salih M, Burghes AH, Simard L, Korneluk RG, Ikeda JE, Surh L.
Hum Mol Genet 3(11):1951-6. 1994
99SMA
A YAC contig of the region containing the spinal muscular atrophy gene (SMA) : identification of an unstable region.
Carpten JD, et al.
Genomics 24 : 351-356. 1994
100SMA
Association between Agl-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.
DiDonato CJ, et al.
Am J Hum Genet 55 : 1218-1229. 1994
101SMA
Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy.
Rudnik-Schšneborn S, et al.
Am J Hum Genet 55 : 112-119. 1994
102SMA, SMN1
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
Theodosiou AM, Morrison KE, Nesbit AM, Daniels RJ, Campbell L, FrancisMJ, Christodoulou Z, Davies KE.
Am J Hum Genet 55(6):1209-17. 1994
103SMA
Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
Soares VM, et al.
Genomics 15 : 365-371. 1993
104SMA
Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy.
Brzustowicz LM, et al.
Hum Hered 43 : 380-387. 1993
105SMA
Fine mapping and narrowing of the genetic interval of the spinal muscular atrophy region by linkage studies.
Wirth B, et al.
Genomics 15 : 113-118. 1993
106SMA
Linkage mapping detects two secondary microdeletions in cell hybrid HHW1064, used to isolate DNA probes from within 5q11.2-q13.3.
Bernard LE, et al.
Cytogenet Cell Genet 64 : 46-48. 1993
107SMA
High resolution physical map of the region surrounding the spinal muscular atrophy gene.
Thompson TG, et al.
Hum Mol Genet 2 : 1169-1176. 1993
108SMA
Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.
Kleyn PW, et al.
Proc Natl Acad Sci U S A 90 : 6801-6805. 1993
109SMA
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.
Francis MJ, et al.
Hum Mol Genet 2 : 1161-1167. 1993
110SMA
Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).
Morrison KE, et al.
Hum Genet 92 : 133-138. 1993
111SMA
Paternal isodisomy for chromosome 5 in a child affected with spinal muscular atrophy.
Allitto BA, et al.
Am J Hum Genet 53 : 1117. 1993
112SMA
Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.
Melki J, et al.
Genomics 15 : 521-524....... 1993
113SMA
Genetic linkage analysis of Canadian spinal muscular atrophy kindreds using flanking microsatellite 5q13 polymorphisms.
MacKenzie A, et al.
Hum Genet 90 : 501-504. 1993
114SMA
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
Melki J, et al.
J Med Genet 29 : 171-174. 1992
115SMA
Linkage analysis of spinal muscular atrophy.
Daniels RJ, et al.
Genomics 12 : 335-339. 1992
116SMA
Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.
MŸller B, et al.
Am J Hum Genet 50 : 892-895. 1992
117SMA
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
Morrison KE, et al.
Am J Hum Genet 50 : 520-527. 1992
118MAP1B, SMA
Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
Brzustowicz LM, et al.
Genomics 13 : 991-998. 1992
119SMA
Linkage study of chronic childhood-onset spinal muscular atrophy (SMA) : confirmation of close linkage to D5S39 in French Canadian families.
Simard LR, et al.
Genomics 14 : 188-190. 1992
120SMA
Radiation hybrid mapping of the spinal muscular atrophy region (5q12-13.2) and isolation of region-specific clones.
McPherson JD, et al.
Am J Hum Genet 51 : A242. 1992
121SMA
Physical map around the spinal muscular atrophy gene using yeast artificial chromosomes.
Melki J, et al.
Am J Hum Genet 51 : A242. 1992
122SMA
Genotyping of spinal muscular atrophy families with linked DNA probes.
Gennarelli M, et al.
Clin Genet 42 : 317-319. 1992
123SMA
In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12-q13.3.
Mattei MG, et al.
Cytogenet Cell Genet 57 : 112-113. 1991
124SMA
Generation of new DNA probes in the vicinity of the spinal muscular atrophy locus.
Abdelhak S, et al.
(HGM11) Cytogenet Cell Genet 58 : 1893. 1991
125SMA
Linkage studies in spinal muscular atrophy.
Daniels RJ, et al.
(HGM11) Cytogenet Cell Genet 58 : 1894. 1991
126SMA
Physical mapping around the spinal muscular atrophy gene on chromosome 5 using yeast artificial chromosomes (YACs).
Francis MJ, et al.
(HGM11) Cytogenet Cell Genet 58 : 1895. 1991
127SMA
Mapping contributions in the gene region for proximal spinal muscular atrophy.
Huschenbett J, et al.
(HGM11) Cytogenet Cell Genet 58 : 1897. 1991
128SMA
Molecular genetic study of the region around the spinal muscular atrophy gene. Enriching the region with further markers.
Wirth BI, et al.
(HGM11) Cytogenet Cell Genet 58 : 1906. 1991
129SMA
Linkage analysis in spinal muscular atrophy with six closely flanking markers on chromosome 5.
Sheth P, et al.
Am J Hum Genet 48 : 764-768. 1991
130SMA
No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.
Kausch K, et al.
Hum Genet 86 : 317-318. 1991
131SMA
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.
Melki J, et al.
Nature 344 : 767-768. 1990
132SMA
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).
Munsat TL, et al.
Neurology 40 : 1831-1836. 1990
133SMA
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
Gilliam TC, et al.
Nature 345 : 823-825. 1990
134SMA
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.
Brzustowicz LM, et al.
Nature 344 : 540-541. 1990
135SMA
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14.
Melki J, et al.
Lancet 336 : 271-273. 1990
136SMA
Heterogeneity in proximal spinal muscular atrophy.
Zerres K, et al.
Lancet 336 : 749-750. 1990
137SMA
Mapping of acute spinal muscular atrophy in inbred families.
Lehner T, et al.
Am J Hum Genet 47 : A189. 1990