| P50 | author | Teguh Haryo Sasongko | Q42622256 |
| | Gunadi | Q80114052 |
| P2093 | author name string | Masafumi Matsuo | |
| | Yosuke Harada | |
| | Hisahide Nishio | |
| | Myeong Jin Lee | |
| | Ahmad Hamim Sadewa | |
| | Hitoshi Ayaki | |
| | Retno Sutomo | |
| | Emiko Fujii | |
| | Toshinori Minato | |
| | Shoichi Endo | |
| | Tomohiro Kotani | |
| P2860 | cites work | The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy | Q24308680 |
| | SMN tudor domain structure and its interaction with the Sm proteins | Q27629094 |
| | Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy | Q28137718 |
| | The SMN complex | Q28259557 |
| | Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 |
| | Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin | Q31003752 |
| | An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). | Q33840923 |
| | A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients | Q34297206 |
| | Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy | Q34353103 |
| | Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. | Q35889825 |
| | Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. | Q38301685 |
| | Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. | Q40484524 |
| | Characterization of functional domains of the SMN protein in vivo | Q40778498 |
| | Tudor domains in proteins that interact with RNA. | Q41361779 |
| | A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene | Q44519563 |
| | 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. | Q53344748 |
| | SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. | Q54656854 |
| | Analysis of mutations in the tudor domain of the survival motor neuron protein SMN | Q57025022 |
| | Detection of novel mutations in the SMN Tudor domain in type I SMA patients | Q61806611 |
| | Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I | Q71902152 |
| | De novo and inherited deletions of the 5q13 region in spinal muscular atrophies | Q72679218 |
| | Tudor reign | Q73339999 |
| | Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity | Q74813515 |
| | Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations | Q77886714 |
| P433 | issue | 5 | |
| P304 | page(s) | 624-630 | |
| P577 | publication date | 2007-04-06 | |
| P1433 | published in | Journal of Neurology | Q6295649 |
| P1476 | title | A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins | |
| P478 | volume | 254 | |