Associated Papers
Genetic and structural aspects of amyloid diseases.
Rosenberg GM et al.
Science Translational Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Cell type-specific gene therapy confers protection against motor neuron disease caused by a TFG variant.
Lettman MM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Multiple roles for TFG ring complexes in neuronal cargo trafficking.
Zhang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
Hereditary motor and sensory neuropathy Okinawa type should be reclassified as myopathy with axonal neuropathy.
Finsterer J
Clinical Neurology and Neurosurgery, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
Hsiao CT et al.
Annals of Clinical and Translational Neurology, 2024
Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Cabras S et al.
Muscle & Nerve, 2024
Hereditary motor and sensory neuropathy Okinawa type mimicking proximal myopathy.
Braga VL et al.
Clinical Neurology and Neurosurgery, 2024
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu L et al.
Journal of Medical Genetics, 2024
Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.
Rosenberg GM et al.
Pnas Nexus, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Clinical genetics of Charcot-Marie-Tooth disease.
Higuchi Y et al.
Journal of Human Genetics, 2023
TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
Chen X et al.
Cns Neuroscience & Therapeutics, 2022
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
Yoo D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
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
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
Carinci M et al.
The Embo Journal, 2021
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
Miura S et al.
Journal of Human Genetics, 2020
A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
Wu DW et al.
Brain and Behavior, 2020
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C et al.
Human Mutation, 2020
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.
Fabrizi GM et al.
Neuromuscular Disorders : Nmd, 2020
Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation.
Yamashita S et al.
Muscle & Nerve, 2019
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Khani M et al.
American Journal of Medical Genetics. Part A, 2019
Sural nerve pathology in TFG-associated motor neuron disease with sensory neuropathy.
Li J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
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
A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy.
Madigan NN et al.
Neurology. Genetics, 2018
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.
Catania A et al.
Neurogenetics, 2018
[An early history of Japanese amyotrophic lateral sclerosis (ALS)-related diseases and the current development].
Abe K
Rinsho Shinkeigaku = Clinical Neurology, 2018
TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
Tariq H et al.
Neurogenetics, 2017
Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.
Murakami N et al.
Molecular Brain, 2017
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Harlalka GV et al.
Human Mutation, 2016
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.
Khani M et al.
Journal of the Neurological Sciences, 2016
TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.
Yagi T et al.
Journal of Neuropathology and Experimental Neurology, 2016
The Increasing Importance of Gene-Based Analyses.
Cirulli ET
Plos Genetics, 2016
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 2015
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry.
Alavi A et al.
Neurobiology of Aging, 2015
[Two cases of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].
Mori C et al.
Rinsho Shinkeigaku = Clinical Neurology, 2015
Membrane-shaping disorders: a common pathway in axon degeneration.
Hübner CA et al.
Brain : a Journal of Neurology, 2014
Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.
Peeters K et al.
Brain : a Journal of Neurology, 2014
Evidence of TRK-Fused Gene (TFG1) function in the ubiquitin-proteasome system.
Yagi T et al.
Neurobiology of Disease, 2014
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene.
Lee SS et al.
Jama Neurology, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Beetz C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
[Pathomechanisms of motor neuron death by mutant TFG].
Kawarai T et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].
Ishiura H et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H et al.
American Journal of Human Genetics, 2012
[Amyotrophic lateral sclerosis].
Shiote M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2001