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Article

Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2020

Steel Dora, Heim Jennifer, Kruer Michael C, Sanchis-Juan Alba, Raymond Lucy F, Eunson Paul, Kurian Manju A

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PMID: 31922275
DOI: 10.1002/mds.27981

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Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.PMID 31922275Read ↗

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Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilitySemantic proximity Read ↗

Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8.Semantic proximity Read ↗

Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.Semantic proximity Read ↗

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Semantic proximity Read ↗

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.Semantic proximity Read ↗

Dystonia with and without deafness is caused by TIMM8A mutation.Semantic proximity Read ↗

Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome.Semantic proximity Read ↗

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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.Semantic proximity Read ↗

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.Semantic proximity Read ↗

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