2019
DOI: 10.1002/ana.25549
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Severe brain involvement in 5q spinal muscular atrophy type 0

Abstract: View this article online at wileyonlinelibrary.com.

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citations
Cited by 38 publications
(51 citation statements)
references
References 21 publications
(94 reference statements)
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“…1 These cases support the hypothesis that survival motor neuron (SMN), the causative gene for SMA, was expressed widely throughout the central nervous system (CNS), including cerebral cortex and cerebellum. 1 These cases support the hypothesis that survival motor neuron (SMN), the causative gene for SMA, was expressed widely throughout the central nervous system (CNS), including cerebral cortex and cerebellum.…”
supporting
confidence: 56%
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“…1 These cases support the hypothesis that survival motor neuron (SMN), the causative gene for SMA, was expressed widely throughout the central nervous system (CNS), including cerebral cortex and cerebellum. 1 These cases support the hypothesis that survival motor neuron (SMN), the causative gene for SMA, was expressed widely throughout the central nervous system (CNS), including cerebral cortex and cerebellum.…”
supporting
confidence: 56%
“…1 Our case demonstrated a more severe phenotype, with brainstem and cerebellum atrophy accompanied by epilepsy. 1 Our case demonstrated a more severe phenotype, with brainstem and cerebellum atrophy accompanied by epilepsy.…”
mentioning
confidence: 59%
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“…1 We would like to reply to some of the comments in their letter. 1 We would like to reply to some of the comments in their letter.…”
mentioning
confidence: 98%
“…1 Maeda et al ascribe the extreme severity of their patient to the presence of 1 SMN2 copy and the absence of the NAIP gene. This case represents another example of evolutionary brain atrophy that becomes worse with time in patients with type 0 spinal muscular atrophy (SMA), who survive longer through artificial invasive ventilation.…”
mentioning
confidence: 99%