The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.
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DBSMatchMaker: Connecting Clinicians Globally for Deep Brain Stimulation in Rare Diseases.
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Heterozygous variants in AP4S1 are not associated with a neurological phenotype.
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Blended phenotype of TECPR2-associated hereditary sensory-autonomic neuropathy and Temple syndrome.
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STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
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Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series.
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Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.
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Juvenile-onset Huntington's disease - Spectrum and evolution of presenting movement disorders.
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