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Paper Details

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
6
2022
Complex Hereditary Spastic Paraplegia, Familial hereditary spastic paraplegia, HSP, Parkinson and Movement Disorder, SPAST, SPG4, Spastic Paraplegia, cerebral palsy, children, dysmotility, dystonia, epilepsy, gastrointestinal, motor and speech delay, neurogenic bladder dysfunction, p.Arg499His, patients, spasticity
Author NameAffiliation
Mustafa SahinBoston Children's Hospital, Harvard Medical School
Jennifer E PoseyBaylor College of Medicine
Katharine E AlterClinical Center, National Institutes of Health
Camilo ToroNational Institutes of Health
Ariane SoldatosNational Institute of Neurological Disorders and Stroke, National Institutes of Health
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Release 1.2