Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.

Generation of eight human induced pluripotent stem cells lines from patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS).

Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion.

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Dual cancers in Ataxia-Telangiectasia: a case report and literature review.

Sacsin deletion decreases cell viscoelasticity and motility in a glial cell model of autosomal recessive spastic ataxia of Charlevoix Saguenay.

Long-term benefits of TUDCA supplement in ARSACS zebrafish model.

An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy.

S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Alterations in the Na+/H+ Exchanger NHE6 and Glutamate Transporters may Influence Purkinje Cell Fate in ARSACS.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

Identification of a large homozygous RNF216 deletion in a Chinese patient with gordon holmes syndrome.

Autosomal Recessive Ataxias in Northeast Brazil: A Regional Multicenter Case Series.

Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich's Ataxia Mouse Models.

Neurochemical alterations in the cerebellum of Friedreich's Ataxia mouse models.

Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.

Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.

Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.

Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Drug repurposing screen for the rare disease ataxia-telangiectasia.

The ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5.

PHARC syndrome: an overview.

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload.

The Latest Developments for the Treatment of Ataxia Telangiectasia: A Narrative Review.

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia.

A human microglial cell model of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Driving Mitochondrial Fission Improves Cognitive, but not Motor Deficits in a Mouse Model of Ataxia of Charlevoix-Saguenay.

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial.

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.

Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia.

Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Vestibular Hypofunction in ARSACS Syndrome: A Possible Pitfall in the Differential Diagnosis of Recessive Cerebellar and Afferent Ataxias.

Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.

Role of DDX1 in the oxidative response of ataxia telangiectasia patient-derived fibroblasts.

A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.

Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia.

In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA.

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion: A Case Report.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Dexamethasone induces p21cip1/waf1 expression via FoxO3a independently of the Lamin A/C-HDAC2 interaction in Ataxia Telangiectasia.

Cross-talk between DNA damage response and the central carbon metabolic network underlies selective vulnerability of Purkinje neurons in ataxia-telangiectasia.

A mitochondrial-targeted antioxidant (MitoQ) improves motor coordination and reduces Purkinje cell death in a mouse model of ARSACS.

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.

SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.

Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation.

A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.

The J Domain of Sacsin Disrupts Intermediate Filament Assembly.

A Case of Gillespie Syndrome With Atypical Presentation.

Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient.

Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Treatable Ataxias: How to Find the Needle in the Haystack?

Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.

Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.

ANO10 Function in Health and Disease.

In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients.

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.

Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives.

Case Report: Infantile Cerebellar-Retinal Degeneration With Compound Heterozygous Variants in ACO2 Gene-Long-Term Follow-Up of a Sibling.

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.

Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).

Persistent DNA damage associated with ATM kinase deficiency promotes microglial dysfunction.

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.

How to Detect Isolated PEX10-Related Cerebellar Ataxia?

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Dysfunction of cerebellar microglia in Ataxia-telangiectasia.

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.

Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.

Autosomal recessive adult onset ataxia.

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish.

Mechanisms Underlying the Suppression of Chromosome Rearrangements by Ataxia-Telangiectasia Mutated.

Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene.

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

Free sialic acid storage disorder: Progress and promise.

Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

Elevated inflammatory responses and targeted therapeutic intervention in a preclinical mouse model of ataxia-telangiectasia lung disease.

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.

Alteration of Neural Stem Cell Functions in Ataxia and Male Sterility Mice: A Possible Role of β-Tubulin Glutamylation in Neurodegeneration.

Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 disease.

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Clinical spectrum in multiple families with primary COQ10 deficiency.

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity.

Bone Marrow Transplantation as Therapy for Ataxia-Telangiectasia: A Systematic Review.

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.

ATM Protein Kinase: Old and New Implications in Neuronal Pathways and Brain Circuitry.

Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.

Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.

ATM loss disrupts the autophagy-lysosomal pathway.

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report.

Primary coenzyme Q10 deficiency due to COQ8A gene mutations.

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.

Significance of NT-proBNP and High-sensitivity Troponin in Friedreich Ataxia.

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Reversible Mitochondrial Fragmentation in iPSC-Derived Cardiomyocytes From Children With DCMA, a Mitochondrial Cardiomyopathy.

Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice.

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Neurological manifestations in adults with phenylketonuria: new cases and review of the literature.

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Changes in protein function underlie the disease spectrum in patients with CHIP mutations.

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

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy.

Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.

Ataxia-telangiectasia: A review of clinical features and molecular pathology.

Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

ATM is activated by ATP depletion and modulates mitochondrial function through NRF1.

ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.

Drug repositioning screening identifies etravirine as a potential therapeutic for friedreich's ataxia.

GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.

Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia.

Modulation of chromatin conformation by the histone deacetylase inhibitor trichostatin A promotes the removal of radiation-induced lesions in ataxia telangiectasia cell lines.

Ataxia telangiectasia alters the ApoB and reelin pathway.

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

Disrupted structure and aberrant function of CHIP mediates the loss of motor and cognitive function in preclinical models of SCAR16.

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds.

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.

Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity.

Rare case of Gordon Holmes syndrome.

Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.

Current and Promising Therapies in Autosomal Recessive Ataxias.

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model.

Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease.

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).