Distinct features in adult polyglucosan body disease : a case series
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Neuromuscular disorders - ISSN 0960-8966-33:2 (2023) p. 148-152
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
RFC1 repeat expansions : a recurrent cause of sensory and autonomic neuropathy with cough and ataxia
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European journal of neurology - ISSN 1468-1331-29:7 (2022) p. 2156-2161
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