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      Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

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          Abstract

          New England Journal of Medicine, 377(18), 1723-1732

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          Most cited references7

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          Optimality score for the neurologic examination of the infant at 12 and 18 months of age.

          The aim of this study was to develop and validate a simple, quantifiable, neurologic examination for infants between 2 and 24 months of age. The assessment consists of 37 items, divided into 3 sections. The first section includes 26 items assessing cranial nerve function, posture, movements, tone, and reflexes; the second section of 8 items documents the development of motor function, and the third section of 3 items evaluates the state of behavior. We applied this assessment to a cohort of ninety-two 12-month-old infants and forty-three 18-month-old infants, with no known perinatal risk factors. The proforma presented has been designed according to the frequency distribution of the neurologic findings in this cohort. Each item is scored individually, and a global score is the sum of all individual scores. The quantitative score enhances the value of this examination, both in clinical practice and in research settings.
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            Is Open Access

            Developmental milestones in type I spinal muscular atrophy

            Highlights • This paper reports patterns of natural progression in type I SMA. • The HINE is used to capture motor developmental milestones in SMA. • Motor developmental milestones are rarely acquired in type I SMA infants.
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              134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

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                Author and article information

                Journal
                Massachusetts Medical Society
                2017
                02 November 2017
                01 November 2017
                Article
                10.1056/NEJMOA1702752
                29091570
                97fa2431-585d-40e6-b532-783f2a0f7e43

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