Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene, Clin. Genet, vol.85, pp.470-475, 2014. ,
Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling, Eur. J. Hum. Genet, vol.26, pp.1554-1557, 2018. ,
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene, Hum. Genet, vol.125, pp.29-39, 2009. ,
Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method, Lab Med, 2019. ,
Biomathématiques: pharmacie, médecine 1re & 2e années, 2004. ,
, 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, vol.15, pp.802-816, 2005.
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?, Nat. Rev. Neurosci, vol.10, pp.597-609, 2009. ,
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1, Nat. Genet, vol.30, pp.377-384, 2002. ,
Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy, Rev Med Chil, vol.139, pp.197-204, 2011. ,
Structural Variation Detection and Analysis Using Bionano Optical Mapping, Methods Mol. Biol, vol.1833, pp.193-203, 2018. ,
Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments, Cancer Res, vol.60, pp.2760-2763, 2000. ,
Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy, Am. J. Med. Genet, vol.85, pp.463-469, 1999. ,
Recommendations for the diagnosis and management of typical childhood spinal muscular atrophy, Rev. Neurol, vol.168, pp.902-909, 2012. ,
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases, Hum. Genet, vol.108, pp.222-229, 2001. ,
Spinal muscular atrophy, Orphanet J Rare Dis, vol.6, 2011. ,
Three decades of nanopore sequencing, Nat. Biotechnol, vol.34, pp.518-524, 2016. ,
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, Am. J. Hum. Genet, vol.70, pp.358-368, 2002. ,
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients, J Neuromuscul Dis, vol.3, pp.487-495, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-02452334
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease, Am. J. Hum. Genet, vol.59, pp.1057-1065, 1996. ,
Electrophysiological findings in childhood spinal muscular atrophies, Rev. Neurol, vol.144, pp.716-720, 1988. ,
Differences in SMN1 allele frequencies among ethnic groups within North America, J. Med. Genet, vol.46, pp.641-644, 2009. ,
Ueber die hereditäre progressive spinale Muskelatrophie im Kindesalter, 1900. ,
Ueber chronische spinale Muskelatrophie im Kindesalter, auf faliliärer Basis, Dtsch. Z Nervenheilk, vol.3, pp.427-470, 1893. ,
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy, Nat. Genet, vol.34, pp.460-463, 2003. ,
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy, AMA Arch Neurol Psychiatry, vol.75, pp.500-509, 1956. ,
,
Identification and characterization of a spinal muscu lar atrophy-determining gene, Cell, vol.80, pp.155-165, 1995. ,
Correlation between severity and SMN protein level in spinal muscular atrophy, Nat. Genet, vol.16, pp.265-269, 1997. ,
A novel nuclear structure containing the survival of motor neurons protein, EMBO J, vol.15, pp.3555-3565, 1996. ,
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy, Proc. Natl. Acad. Sci. U.S.A, vol.96, pp.6307-6311, 1999. ,
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy, Genet. Med, vol.16, pp.149-156, 2014. ,
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2, Genet. Med, vol.4, pp.20-26, 2002. ,
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number, Am. J. Hum. Genet, vol.60, pp.1411-1422, 1997. ,
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2, Hum. Mol. Genet, vol.8, pp.1177-1183, 1999. ,
International SMA consortium meeting, Neuromuscul. Disord, vol.2, pp.423-428, 1992. ,
Heteroduplex formation in SMN gene dosage analysis, J Mol Diagn, vol.3, issue.10, pp.60666-60672, 2001. ,
Genetic risk assessment in carrier testing for spinal muscular atrophy, Am. J. Med. Genet, vol.110, pp.301-307, 2002. ,
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations, Eur. J. Hum. Genet, vol.12, pp.1015-1023, 2004. ,
The SMN complex, an assemblyosome of ribonucleoproteins, Curr. Opin. Cell Biol, vol.14, issue.02, pp.332-332, 2002. ,
URL : https://hal.archives-ouvertes.fr/hal-02279924
A positive modifier of spinal muscular atrophy in the SMN2 gene, Am. J. Hum. Genet, vol.85, pp.408-413, 2009. ,
Newborn and carrier screening for spinal muscular atrophy, Am. J. Med. Genet. A, vol.152, pp.1608-1616, 2010. ,
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7, Neurogenetics, vol.1, pp.141-147, 1997. ,
Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method, J. Med. Genet, vol.38, pp.240-243, 2001. ,
Best practice guidelines for molecular analysis in spinal muscular atrophy, Eur. J. Hum. Genet, vol.9, pp.484-491, 2001. ,
Diverse role of survival motor neuron protein, Biochim Biophys Acta Gene Regul Mech, vol.1860, pp.299-315, 2017. ,
,
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens, Eur. J. Hum. Genet, vol.20, pp.27-32, 2012. ,
Quantitation of targets for PCR by use of limiting dilution, BioTechniques, vol.13, pp.444-449, 1992. ,
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis, Am. J. Med. Genet. A, vol.158, pp.1735-1741, 2012. ,
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy, Hum. Mutat, vol.32, pp.989-994, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-02336367
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy, Hum. Mutat, vol.31, pp.1110-1125, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-02336380
Digital PCR, Proc. Natl. Acad. Sci. U.S.A, vol.96, pp.9236-9241, 1999. ,
Consensus Statement for Standard of Care in Spinal Muscular Atrophy, Participants of the International Conference on SMA Standard of Care, vol.22, pp.1027-1049, 2007. ,
Die frühinfantile progressivespinale Amyotrophie, Arch. Psychiat. Nervenkr, vol.26, pp.706-744, 1894. ,
Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage, Arch. Psychiat. Nervenkr, vol.22, pp.437-480, 1891. ,
An update of the mutation spectrum of the survival motor neuron gene (S MN1) in autosomal recessive spinal muscular atrophy (SMA), Hum. Mutat, vol.15, pp.228-237, 2000. ,
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype -phenotype correlation, and implications for genetic counseling, Am. J. Hum. Genet, vol.64, pp.1340-1356, 1999. ,
De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling, Am. J. Hum. Genet, vol.61, pp.1102-1111, 1997. ,