155 related articles for article (PubMed ID: 15548501)
1. Phenotypic variability in siblings with type III spinal muscular atrophy.
Muqit MM; Moss J; Sewry C; Lane RJ
J Neurol Neurosurg Psychiatry; 2004 Dec; 75(12):1762-4. PubMed ID: 15548501
[TBL] [Abstract][Full Text] [Related]
2. Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.
Yiu EM; Ravat S; Ryan MM; Shield LK; Smith LJ; Kornberg AJ
Muscle Nerve; 2008 Jul; 38(1):930-2. PubMed ID: 18508340
[TBL] [Abstract][Full Text] [Related]
3. A clinical and genetic study of spinal muscular atrophy.
Mishra VN; Kalita J; Kesari A; Mitta B; Shankar SK; Misra UK
Electromyogr Clin Neurophysiol; 2004; 44(5):307-12. PubMed ID: 15378871
[TBL] [Abstract][Full Text] [Related]
4. Spinal muscular atrophy variant with congenital fractures.
Kelly TE; Amoroso K; Ferre M; Blanco J; Allinson P; Prior TW
Am J Med Genet; 1999 Nov; 87(1):65-8. PubMed ID: 10528250
[TBL] [Abstract][Full Text] [Related]
5. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
Voutoufianakis S; Psoni S; Vorgia P; Tsekoura F; Kekou K; Traeger-Synodinos J; Kitsiou S; Kanavakis E; Fryssira H
Eur J Paediatr Neurol; 2007 Jul; 11(4):235-9. PubMed ID: 17276711
[TBL] [Abstract][Full Text] [Related]
6. Phenotype and genotype correlation in childhood spinal muscular atrophy.
Hausmanowa-Petrusewicz I
Neurol Neurochir Pol; 2001; 35 Suppl 3():29-35. PubMed ID: 12001651
[TBL] [Abstract][Full Text] [Related]
7. Severe spinal muscular atrophy variant associated with congenital bone fractures.
Felderhoff-Mueser U; Grohmann K; Harder A; Stadelmann C; Zerres K; Bührer C; Obladen M
J Child Neurol; 2002 Sep; 17(9):718-21. PubMed ID: 12503654
[TBL] [Abstract][Full Text] [Related]
8. Spinal muscular atrophy: recent advances and future prospects.
Nicole S; Diaz CC; Frugier T; Melki J
Muscle Nerve; 2002 Jul; 26(1):4-13. PubMed ID: 12115944
[TBL] [Abstract][Full Text] [Related]
9. [Proximal autosomal recessive types of spinal muscular atrophy].
Kolokolov OV; Iudina GK; Solovykh NN; Evgrafov OV
Zh Nevrol Psikhiatr Im S S Korsakova; 2003; 103(8):66-8. PubMed ID: 14564781
[TBL] [Abstract][Full Text] [Related]
10. The role of the SMN gene in proximal spinal muscular atrophy.
Lefebvre S; Bürglen L; Frézal J; Munnich A; Melki J
Hum Mol Genet; 1998; 7(10):1531-6. PubMed ID: 9735373
[TBL] [Abstract][Full Text] [Related]
11. An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).
Helmken C; Wetter A; Rudnik-Schöneborn S; Liehr T; Zerres K; Wirth B
Eur J Hum Genet; 2000 Jul; 8(7):493-9. PubMed ID: 10909848
[TBL] [Abstract][Full Text] [Related]
12. Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling.
Shanmugarajan S; Swoboda KJ; Iannaccone ST; Ries WL; Maria BL; Reddy SV
J Child Neurol; 2007 Aug; 22(8):967-73. PubMed ID: 17761651
[TBL] [Abstract][Full Text] [Related]
13. The neurobiology of childhood spinal muscular atrophy.
Crawford TO; Pardo CA
Neurobiol Dis; 1996 Apr; 3(2):97-110. PubMed ID: 9173917
[No Abstract] [Full Text] [Related]
14. Pathogenesis of proximal autosomal recessive spinal muscular atrophy.
Simic G
Acta Neuropathol; 2008 Sep; 116(3):223-34. PubMed ID: 18629520
[TBL] [Abstract][Full Text] [Related]
15. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.
Thurmond J; Butchbach ME; Palomo M; Pease B; Rao M; Bedell L; Keyvan M; Pai G; Mishra R; Haraldsson M; Andresson T; Bragason G; Thosteinsdottir M; Bjornsson JM; Coovert DD; Burghes AH; Gurney ME; Singh J
J Med Chem; 2008 Feb; 51(3):449-69. PubMed ID: 18205293
[TBL] [Abstract][Full Text] [Related]
16. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
Bürglen L; Amiel J; Viollet L; Lefebvre S; Burlet P; Clermont O; Raclin V; Landrieu P; Verloes A; Munnich A; Melki J
J Clin Invest; 1996 Sep; 98(5):1130-2. PubMed ID: 8787675
[TBL] [Abstract][Full Text] [Related]
17. The role of SMN in spinal muscular atrophy.
Jablonka S; Rossoll W; Schrank B; Sendtner M
J Neurol; 2000 Mar; 247 Suppl 1():I37-42. PubMed ID: 10795885
[TBL] [Abstract][Full Text] [Related]
18. [Spinal muscular atrophy: SMN protein deficiency].
Jedrzejowska M
Neurol Neurochir Pol; 2001; 35(2):289-97. PubMed ID: 11599226
[TBL] [Abstract][Full Text] [Related]
19. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.
Rudnik-Schöneborn S; Hausmanowa-Petrusewicz I; Borkowska J; Zerres K
Eur Neurol; 2001; 45(3):174-81. PubMed ID: 11306862
[TBL] [Abstract][Full Text] [Related]
20. Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
Talbot K; Rodrigues N; Bernert G; Bittner R; Davies K
J Med Genet; 1996 Dec; 33(12):1019-21. PubMed ID: 9004135
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
