Associated Papers
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
A New Phenotype-Genotype Correlation for FIG4 and Parkinson's Disease.
Boura I et al.
Movement Disorders Clinical Practice, 2026
Unraveling Peripheral Neuropathy in Parkinsonism from Acquired to Genetic Forms: A Review with Diagnostic Framework for Clinicians.
Moreno-Lopez C et al.
Movement Disorders Clinical Practice, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Lauerova B et al.
European Journal of Medical Genetics, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Unmasking the Unexpected: FIG4-Related Disorder Presenting with Progressive Supranuclear Palsy-Like Features.
Retailleau É et al.
Movement Disorders Clinical Practice, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.
Tang H et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 2024
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
Boura I et al.
Genes, 2024
FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis.
Mendes Ferreira V et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
Maver A et al.
European Journal of Human Genetics : Ejhg, 2024
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS et al.
Cold Spring Harbor Perspectives in Biology, 2024
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S et al.
Journal of Neurology, 2024
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Baumgartner D et al.
Journal of Neuromuscular Diseases, 2024
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Beauregard-Lacroix É et al.
Genetics in Medicine Open, 2024
Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.
Cao X et al.
G3 (bethesda, Md.), 2023
Genetic characterization of primary lateral sclerosis.
de Boer EMJ et al.
Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Sait H et al.
American Journal of Medical Genetics. Part A, 2023
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
Lenk GM et al.
Molecular Genetics and Metabolism, 2022
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings.
Chaudhuri J et al.
The International Journal of Neuroscience, 2022
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Clinical and Genetic Analysis of a Patient with CMT4J.
Peddareddygari LR et al.
Neurology International, 2022
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.
Liu CY et al.
Journal of Clinical Neurology (seoul, Korea), 2022
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis.
Yilihamu M et al.
Frontiers in Neurology, 2022
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Yu Y et al.
Frontiers in Pediatrics, 2022
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
Uchôa Cavalcanti EB et al.
Journal of the Peripheral Nervous System : Jpns, 2021
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
Presa M et al.
The Journal of Clinical Investigation, 2021
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
Borda V et al.
Plos Neglected Tropical Diseases, 2021
Effect of familial clustering in the genetic screening of 235 French ALS families.
Corcia P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard SR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021