Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.

Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing.

Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating Scale.

A Typical Neuroaxonal Dystrophy or an Atypical Form of Huntington Disease?

Psychometric challenges and opportunities in optimizing the Infantile Neuroaxonal Dystrophy Rating Scale.

Clinicoradiologic Features and Genetic Findings of Infantile Neuroaxonal Dystrophy.

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.

Consensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN).

PLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.

Association of Novel Pathogenic Variant (p. Ile366Asn) in PLA2G6 Gene with Infantile Neuroaxonal Dystrophy.

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.

The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.

A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Unveiling the role of iPLA2β in neurodegeneration: From molecular mechanisms to advanced therapies.

Infantile neuroaxonal dystrophy causing iron deposition in the bilateral globus pallidus.

Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

A systematic analysis of genotype-phenotype associations with PLA2G6.

The role of the PLA2G6 gene in neurodegenerative diseases.

Human induced pluripotent stem cell line (ONHi001-A) generated from a patient with infantile neuroaxonal dystrophy having PLA2G6 c.517C > T (p.Q173X) and c.1634A > G (p.K545R) compound heterozygous mutations.

PLA2G6-associated late-onset parkinsonism in a Sudanese family.

Sphingolipids in neurodegenerative diseases.

Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14).

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.

Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.

A GLP1 receptor agonist diabetes drug ameliorates neurodegeneration in a mouse model of infantile neurometabolic disease.

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.

Leucine encoding codon TTG shows an inverse relationship with GC content in genes involved in neurodegeneration with iron accumulation.

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.

Insights into Lewy body disease from rare neurometabolic disorders.

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.

Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD).

Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene.

Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe.

The infantile neuroaxonal dystrophy rating scale (INAD-RS).

Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases.

The natural history of infantile neuroaxonal dystrophy.

Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy.

INAD and Duchenne muscular dystrophy, two ends of the iPLA2β spectrum.

[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].

[Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].

Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy.

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants.

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.

Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments.

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Potential effect of maternal dietary sucrose or fructose syrup on CD36, leptin, and ghrelin-mediated fetal programming of obesity.

Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain.

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.

Neurodegeneration with brain iron accumulation.

Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy.

Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212].

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling.

Perioperative considerations in infantile neuroaxonal dystrophy.

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.

[Diagnosis, evolution and prognosis of prenatally diagnosed suprasellar cysts].

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications.

Mitochondria from a mouse model of the human infantile neuroaxonal dystrophy (INAD) with genetic defects in VIA iPLA2 have disturbed Ca(2+) regulation with reduction in Ca(2+) capacity.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.

Two unusual cases of PLA2G6-associated neurodegeneration from India.

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].

Extreme Spindles and Leukoencephalopathy after Acute Lymphoblastic Leukemia Treatment: An Undescribed Association.

Kept in Mind Infantile Neuroaxonal Dystrophy.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.

Neuroaxonal dystrophy in PLA2G6 knockout mice.

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.