Albers, C. & Grieve, A., 2007. Test Review: Bayley, N. (2006). Bayley Scales of Infant and Toddler Development – Third Edition. San Antonio, TX: Harcourt Assessment. Journal of Psychoeducational Assessment, 25(2), pp. 180-198.
Al-Zaidy, S. et al., 2019. AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort. Journal of Neuromuscular Diseases, 6(3), pp. 307-317.
Al-Zaidy, S. et al., 2019. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatric Pulmonology, Volume 54, pp. 179-185.
Audic, F. & Barnérias, C., 2020. Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease). Archives de Pédiatrie, 27(7S), pp. 7S15-7S17.
Baranello, G. et al., 2021. Risdiplam in Type 1 Spinal Muscular Atrophy. The New England Journal of Medicine, Volume 384, pp. 915-923.
Barois, A. et al., 2005. Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases). Bulletine de l'Academie Nationale de Medicine, 189(6), pp. 1181-98.
Bérard, C. et al., 2006. A motor function measurement scale for neuromuscular diseases. Description and validation study. Revue Neurologique, 162(4), pp. 485-493.
Bérard, C. et al., 2005. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscular Disorders, 15(7), pp. 463-470.
Bertini, E. et al., 2017. Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. The Lancet. Neurology, 16(7), pp. 513-522.
Calucho, M. et al., 2018. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscular Disorders, 28(3), pp. 208-215.
Cancès, C., Richelme, C. & C Barnérias, C. E., 2020. Clinical features of spinal muscular atrophy (SMA) type 2. Archives de Pédiatrie, 27(7S), pp. 7S18-7S22.
Chng, S. et al., 2003. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. Journal of Paediatrics and Child Health, 39(9), pp. 673-6.
Crawford, T. et al., 2012. Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (bforSMA) Clinical Study. Plos One, 7(4), p. e33572.
D’Amico, A., Mercuri, E., Tiziano, F. & Bertini, E., 2011. Spinal muscular atrophy. Orphanet Journal of Rare Diseases, 6(71).
Darras, B. et al., 2019. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies. Neurology, 92(21), pp. e2492-e2506.
de Lattre, C. et al., 2013. Motor function measure: validation of a short form for young children with neuromuscular diseases. Archives of Physical Medicine and Rehabilitation, 94(11), pp. 2218-2226.
De Vivo, D. et al., 2019. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscular Disorders, 29(11), pp. 842-856.
Dubowitz, V., 1964. Infantile muscular atrophy. A prospective study with particular reference to a slowly progressive variety. Brain, Volume 87, pp. 707-718.
Durmus, H. et al., 2016. Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement. Muscle & Nerve, Volume 55, pp. 651-656.
Engel-Hoek, L. et al., 2009. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem?. Neurology, 73(21), pp. 1787-91.
Feldkötter, M. et al., 2002. 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. American Journal of Human Genetics, 70(2), pp. 358-68.
Feng, Y. et al., 2017. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genetics in Medicine, 19(8), pp. 936-944.
Finkel, R. et al., 2015. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands. Neuromuscular Disorders, 25(7), pp. 593-602.
Finkel, R. et al., 2021. Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study. The Lancet. Child & Adolescent Health, 5(7), pp. 491-500.
Finkel, R. et al., 2017. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. The New England Journal of Medicine, 377(18), pp. 1723-1732.
Finkel, R. et al., 2018. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders, 28(3), pp. 197-207.
Fujak, A. et al., 2013. Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients. BMC Musculoskeletal Disorders, 14(283).
Glanzman, A. et al., 2010. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscular Disorders, 20(3), pp. 155-161.
Haataja, L. et al., 1999. Optimality score for the neurologic examination of the infant at 12 and 18 months of age. The Journal of Pediatrics, 135(2), pp. 153-161.
Hamilton, G. & Gillingwater, T., 2013. Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine, 19(1), pp. 40-50.
Hoffmann, J., 1893. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis (in German). Deutsche Zeitschrift f Nervenheilkunde.
Hong, J.-M. et al., 2020. Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction. Chinese Medical Journal, 133(20), pp. 2510-2511.
Jones, C. et al., 2020. Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. Journal of Neuromuscular Diseases, 7(1), pp. 33-40.
Kaufmann, P. et al., 2012. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology, 79(18), pp. 1889-1897.
Khirani, S. et al., 2013. Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3. European Journal of Paediatric Neurology, 17(6), pp. 552-560.
Kölbel, H. & Müller-Felber, W., 2021. Spinale Muskelatrophie (SMA), Diagnostik und Therapie (in German). AWMF online. Das Portal der wissenschaftlichen Medizin, Versione 1.1.
Kolb, S., Coffey, C., Yankey, J. & Krosschell, K., 2017. Natural history of infantile-onset spinal muscular atrophy. Annals of Neurology, 82(6), pp. 883-891.
Kolb, S. J. & Kissel, J. T., 2015. Spinal Muscular Atrophy. Neurologic clinics, 33(4), pp. 831-846.
Kugelberg, E. & Welander, L., 1956. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. A.M.A. Archives og Neurology and Psychiatry.
Lefebvre, S. et al., 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80(1), pp. 155-65.
Lewelt, A. et al., 2015. Resistance strength training exercise in children with spinal muscular atrophy. Muscle & Nerve, 52(4), pp. 559-67.
Lin, C.-W., Kalb, S. J. & Yeh, W.-S., 2015. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatric Neurology, 53(4), pp. 293-300.
Main, M., Kairon, H., Mercuri, E. & Muntoni, F., 2003. The Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy: a Scale to Test Ability and Monitor Progress in Children with Limited Ambulation. European Journal of Paedriatric Neurology, 7(4), pp. 155-159.
Martin, P. et al., 2022. Spinale Muskelatrophie (in Danish). Nervenarzt, Volume 93, pp. 191-200.
Mazzone, E. et al., 2011. Assessing upper limb function in nonambulant SMA patients: Development of a new module. Neuromuscular Disorders, 21(6), pp. 406-412.
Mazzone, E. et al., 2017. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle & Nerve, 55(6), pp. 869-874.
Mendell, J. et al., 2017. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. The New England Journal of Medicine, 377(18), pp. 1713-1722.
Mercuri, E. et al., 2018. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. The New England Journal of Medicine, Volume 378, pp. 625-635.
Mercuri, E. et al., 2022. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet. Neurology, 21(1), pp. 42-45.
Mercuri, E. et al., 2018. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation,. Neuromuscular Disorders, 28(2), pp. 103-115.
Mercuri, E. et al., 2019. Long-term progression in type II spinal muscular atrophy: a retrospective observational study. Neurology, 93(13), pp. e1241-e1247.
Messina, S. et al., 2008. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscular Disorders, 18(5), pp. 389-93.
Montes, J. et al., 2010. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology, 9(74), pp. 833-838.
Munsat, T. & Davies, K., 1992. Workshop Report: International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders, 2(5-6), pp. 423-428.
Naso, M., Tomkowicz, B., III, W. P. & Strohl, W., 2017. Adeno-Associated Virus (AAV) as a Vector for Gene Therapy. BioDrugs, Volume 31, pp. 317-334.
Nicolau, S., Waldrop, M., Connolly, A. & Mendell, J., 2021. Spinal Muscular Atrophy. Seminars in Pediatric Neurology, Volume 37.
Occhi, E., 2019. Fisiologia e biomeccanica della postura seduta normale e patologica. Dispense Corso di Alta Formazione "Tecnologie per l'Autonomia". Fondazione Don Carlo Gnocchi Onlus
O'Hagen, J. M. et al., 2007. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscular Disorders, 17(9-10), pp. 693-697.
Ramsey, D. et al., 2017. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. Plos One, 12(2).
Ratni, H. et al., 2018. Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA). Journal of Medicinal Chemistry, 61(15), pp. 6501-6517.
Ropars, J., Barnerias, C., Hully, M., 2019. Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?. Neuromuscular Disorders, 29(6), pp. 415-421.
Rouzier, C., Chaussenot, A. & Paquis-Flucklinger, V., 2020. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Archives de Pédiatrie, 27(7), pp. 7S9-7S14.
Russell, D. et al., 1989. The gross motor function measure: a means to evaluate the effects of physical therapy. Developmental Medicine and Child Neurology, 31(3), pp. 341-52.
Russman, B., 2007. Spinal muscular atrophy: clinical classification and disease heterogeneity. Journal of Child Neurology, 22(8), pp. 946-51.
Salort-Campana, E. & Quijano-Roy, S., 2020. Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). Archives de Pédiatrie, 27(7S), pp. 7S23-7S28.
Schorling, D., Pechmann, A. & Kirschner, J., 2020. Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care. Journal of Neuromuscular Diseases, Volume 7, pp. 1-13.
Souza, P. et al., 2020. Clinical and radiological profile of patients with spinal muscular atrophy type 4. European Journal of Neurology, 28(2), pp. 609-619.
Stępień, A., Gajewska, E. & Rekowski, W., 2021. Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints. International Journal of Environmental Research and Public Health, 18(17).
Stępień, A., Jędrzejowska, M., K Guzek, W. R. & Stępowska, J., 2019. Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy. BMC Musculoskeletal Disorders, 20(54).
Stępień, A. et al., 2020. Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy. BMC Musculoskeletal Disorders, 21(726).
Verhaart, I. et al., 2017. A multi-source approach to determine SMA incidence and research ready population. Journal of Neurology, 264(7), pp. 1565-1473.
Vuillerot, C., 2020. State of the art for motor function assessment tools in spinal muscular atrophy (SMA). Archives de Pédiatrie, Volume 27, pp. 7S40-7S44.
Wadman, R. et al., 2017. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c–4. European Journal of Neurology, 25(3), pp. 512-518.
Wang, C. et al., 2007. Consensus statement for standard of care in spinal muscular atrophy. Journal of Child Neurology, 22(8), pp. 1027-1049.
Werdnig, G., 1891. Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage (in German). Arch Psychiatr Nervenkr.
Wijngaarde, C. et al., 2020. Natural history of lung function in spinal muscular atrophy. Orphanet Journal of Rare Disease, 15(1).
Zanetta, C. et al., 2014. Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). Journal of Cellular and Molecular Medicine, 18(2), pp. 187-96.
Zerres, K. & Rudnik-Schöneborn, S., 1995. Natural History in Proximal Spinal Muscular Atrophy: Clinical Analysis of 445 Patients and Suggestions for a Modification of Existing Classification. Archive of Neurology, 52(5), pp. 518-23.
Zerres, K., Rudnik-Schöneborn, S., Forrest, E., 1997. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. Journal of the Neurological Sciences, 146(1), pp. 67-72.