BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
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Genetics in medicine - ISSN 1098-3600-24:12 (2022) p. 2487-2500
Commentary : SPTBN5, encoding the beta V-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures
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Frontiers in Molecular Neuroscience - ISSN 1662-5099-15 (2022) p. 1-3
De novo and dominantly inherited SPTAN1 mutations cause spastic paraplegia and cerebellar ataxia
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Movement disorders: video, videotape supplements - ISSN 0885-3185-37:6 (2022) p. 1175-1186
A recurrent KPNA3 missense variant causing infantile pure spastic paraplegia
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Annals of neurology - ISSN 0364-5134-91:2 (2022) p. 298-299
Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases
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European journal of human genetics - ISSN 1018-4813-29:9 (2021) p. 1325-1331