Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

[1] Kolb SJ(2015)Spinal muscular atrophy Neurol Clin 33 831-846

[2] Kissel JT(2019)A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran Int Med Case Rep J 12 155-159

[3] Badv RS(2018)Diagnosis and management of spinal muscular atrophy. Part I: Recommendations for diagnosis, rehabilitation, orthopedic, and nutritional care Neuromuscul Disord 28 103-115

[4] Nilipour Y(2015)Spinal muscular atrophy: diagnosis and management in a new therapeutic era Muscle Nerve 51 157-167

[5] Dehgolan SR(2017)A multi-source approach to determine SMA incidence and research ready population J Neurol 264 1465-1473

[6] Mercuri E(1995)Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 155-165

[7] Finkel RS(1996)Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype Hum Mol Genet 5 257-263

[8] Muntoni F(1997)Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number Am J Hum Genet 60 1411-1422

[9] Arnold WD(2017)Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried-blood spot DNA Brain Dev 39 774-782

[10] Kassar D(2011)Spinal muscular atrophy Orphanet J Rare Dis 6 71-579

[1] Kolb SJ(2015)Spinal muscular atrophy Neurol Clin 33 831-846

[2] Kissel JT(2019)A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran Int Med Case Rep J 12 155-159

[3] Badv RS(2018)Diagnosis and management of spinal muscular atrophy. Part I: Recommendations for diagnosis, rehabilitation, orthopedic, and nutritional care Neuromuscul Disord 28 103-115

[4] Nilipour Y(2015)Spinal muscular atrophy: diagnosis and management in a new therapeutic era Muscle Nerve 51 157-167

[5] Dehgolan SR(2017)A multi-source approach to determine SMA incidence and research ready population J Neurol 264 1465-1473

[6] Mercuri E(1995)Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 155-165

[7] Finkel RS(1996)Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype Hum Mol Genet 5 257-263

[8] Muntoni F(1997)Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number Am J Hum Genet 60 1411-1422

[9] Arnold WD(2017)Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried-blood spot DNA Brain Dev 39 774-782

[10] Kassar D(2011)Spinal muscular atrophy Orphanet J Rare Dis 6 71-579