Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG57
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
Hsiao CT et al.
Annals of Clinical and Translational Neurology, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L et al.
Journal of Medical Genetics, 2024
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
Khorrami M et al.
Journal of Human Genetics, 2021
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
Miyabayashi T et al.
Journal of Human Genetics, 2019
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A et al.
Neurogenetics, 2018
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
Tariq H et al.
Neurogenetics, 2017
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV et al.
Human Mutation, 2016
Conopeptide ρ-TIA defines a new allosteric site on the extracellular surface of the α1B-adrenoceptor.
Ragnarsson L et al.
The Journal of Biological Chemistry, 2013
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