Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Selectivity Filter Mutation in NaV1.5 Promotes Ventricular Tachycardia.

Assessment of liver and spleen stiffness and hepatic steatosis by transient elastography (Fibroscan®) in type 1 Gaucher disease: a single center case-control cohort study.

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

PMP22-Related Neuropathies: A Systematic Review.

A Diagnostic Paradigm Shift in Acute Myocardial Infarction: Rationale and Design of the DIFOCCULT-3 Trial.

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

Recurrent Cavus Foot in an Adolescent With Marfan Syndrome: A Case Report.

Patellofemoral Biomechanics Considerations: Analysis of Factors Contributing to Patellofemoral Pain.

Is Contralateral Suppression of Otoacoustic Emission Observable in Unilateral Cochlear Implant Users With Auditory Neuropathy Spectrum Disorder?

Association between orthopedic manifestations and tethered cord release in patients with spina bifida: a survival analysis.

Evaluation of lumbopelvic stabilization in patellofemoral pain syndrome.

Unraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms.

Intra-Abdominal Hypertension and Its Prognostic Impact on Mortality in Cirrhotic Patients with Ascites: The Role of Paracentesis.

Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.

The Gradual Correction of Rigid Pes Cavus Using Midfoot Osteotomy Combined with Ilizarov Methods.

Serum Concentrations of Matrix Metalloproteinase-1 and Procollagen Type I Carboxy Terminal Propeptide Discriminate Infarct-Like Myocarditis and Non-ST-Segment-Elevation Myocardial Infarction.

Childhood fever and hearing loss associated with CAPOS syndrome.

Complete Revascularization in Non-ST-Segment Elevation Acute Coronary Syndrome: For Now, Just Do It.

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.

Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.

[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

Retinitis pigmentosa and pes cavus in PHARC-polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract-syndrome in a 62-year-old man.

Bilateral Femur and Humerus Avascular Necrosis Associated With Corticosteroids: A Rare Case Presentation.

Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.

Static posturography analysis for postural instability in patients with Parkinson's disease.

Posterior Heel Pain in Cavovarus Foot: How to Approach It.

Vaccination Status and Outcome of Hospitalized Patients with Coronavirus Disease 2019 Before and After the Spread of Omicron Variant: An Observational Study from İzmir, Turkey.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.

Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report.

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

The Phenotypic Continuum of ATP1A3-Related Disorders.

Sjögren syndrome and RFC1-CANVAS sensory ganglionopathy: co-occurrence or misdiagnosis?

ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.

Molecular and clinical characteristics of ATP1A3-related diseases.

Prevalence of Gastrointestinal Symptoms and Clinical Outcomes in Hospitalized Coronavirus Disease 2019 Patients: A Single-Center Study from Turkey.

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

Patellofemoral Pain Syndrome in Young Female Athletes: A Case-Control Study.

Is Having Inflammatory Bowel Disease a Risk Factor for Severe Acute Respiratory Syndrome Coronavirus 2?

Ruptured pseudoanuerysm of the posterial tibial artery after percutaneous Achilles tenotomy.

Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations.

A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.

Spinal cord detethering without laminectomy or laminotomy.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.

Calcaneal osteotomy for hindfoot deformity.

Surgical correction of foot equino-cavocarus deformity in Klippel-Trénaunay-Weber syndrome: a case report.

Genetically altered animal models for ATP1A3-related disorders.

ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.

An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3 Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

Failure of Major Upper Extremity Replantation Due to COVID-19-Related Arterial Thrombosis.

Hallux and Lesser Digits Deformities Associated with Cavus Foot.

Neurologic Conditions Associated with Cavus Foot Deformity.

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Yield of the PMP22 deletion analysis in patients with compression neuropathies.

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Grisel`s syndrome presenting with neck pain: an atypical case.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Fever-related ataxia: a case report of CAPOS syndrome.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.

Podiatry alterations in Ehlers-Danlos syndrome.

Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome.

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome.

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Functional consequences of the CAPOS mutation E818K of Na+,K+-ATPase.

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Lung ultrasound: Predictor of acute respiratory distress syndrome in intensive care unit patients.

Predictors of colonic pathologies in active acromegaly: single tertiary center experience.

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.

Prognostic value of plasma ST2 in patients with non-ST segment elevation acute coronary syndrome.

Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

Endless story of a spinal column hydatid cyst disease: A case report.

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

ATP1A3-related disorders: An update.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

Neuromuscular diseases: Diagnosis and management.

ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

Novel pregnancy-triggered episodes of CAPOS syndrome.

Ponseti Technique For Management Of Congenital Idiopathic Club Foot.

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.

Tibial Nerve Palsy by a Crossing Posterior Tibial Artery Branch After Lateral Sliding Calcaneal Osteotomy.

Diffuse Cavernous Hemangioma of the Colon.

Belching in Irritable Bowel Syndrome: An Impedance Study.

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Microscopic colitis in patients with Takayasu's arteritis: a potential association between the two disease entities.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation.

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Operative Treatment of Haglund Syndrome With Central Achilles Tendon-Splitting Approach.

Severe pre-eclampsia complicated by HELLP syndrome alterations in the structure of the umbilical cord (morphometric and immunohistochemical study).

Very late-onset friedreich ataxia with laryngeal dystonia.