Thyrotoxicosis in MCT8 deficiency.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Novel MCT8 mutation: diagnostic value of T3/T4 ratio.

Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Tiratricol: First Approval.

MCT8 Deficiency in Females.

Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.

Structural insights into thyroid hormone transporter MCT8.

Allan-Herndon-Dudley Syndrome.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Increased seizure susceptibility in thyroid hormone transporter Mct8/Oatp1c1 knockout mice is associated with altered neurotransmitter systems development.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.

Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Defective thyroid hormone transport to the brain leads to astroglial alterations.

SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

A Highly Selective Fluorescent Probe for Monitoring the Thyroid Hormone Transporter Activity in Mammalian Cells.

3,3',5-Triiodothyroacetic Acid Transporters.

Phenylbutyrate Treatment in a Boy With MCT8 Deficiency: Improvement of Thyroid Function Tests and Possible Hepatotoxicity.

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan-Herndon-Dudley syndrome.

Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.

Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges.

Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan-Herndon-Dudley Syndrome.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene.

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

Simple Evaluation of Thyroid Function Leading to the Diagnosis of Allan-Herndon-Dudley Syndrome, a Rare Neurodevelopmental Disorder.

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.

Focal Dermal Hypoplasia: Case Series.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Maternal Administration of the CNS-Selective Sobetirome Prodrug Sob-AM2 Exerts Thyromimetic Effects in Murine MCT8-Deficient Fetuses.

Mathematical modeling and simulation of thyroid homeostasis: Implications for the Allan-Herndon-Dudley syndrome.

Intracerebroventricular High Doses of 3,3',5-Triiodothyroacetic Acid at Juvenile Stages Improve Peripheral Hyperthyroidism and Mediate Thyromimetic Effects in Limited Brain Regions in a Mouse Model of Monocarboxylate Transporter 8 Deficiency.

TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.

A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency displays distinct neurological alterations.

Thyroid hormone regulators in human cerebral cortex development.

Development and validation of an LC-MS/MS methodology for the quantification of thyroid hormones in dko MCT8/OATP1C1 mouse brain.

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.

Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency.

[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia].

Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

A novel frameshift mutation in Allan-Herndon-Dudley syndrome.

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

Sodium Phenylbutyrate Rescues Thyroid Hormone Transport in Brain Endothelial-Like Cells.

AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.

Identification of Region-Specific Cytoskeletal and Molecular Alterations in Astrocytes of Mecp2 Deficient Animals.

Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.

Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

BAP31: Physiological functions and roles in disease.

Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment.

In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions.

NAA10 variant in 38-week-gestation male patient: a case study.

Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: The Mct8-Oatp1c1-Dio2 Triad.

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.

Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

[Two cases of X-linked mental retardation, Claes-Jensen syndrome caused by variation of KDM5C gene].

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Central Hypothyroidism Impairs Heart Rate Stability and Prevents Thyroid Hormone-Induced Cardiac Hypertrophy and Pyrexia.

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.

Renpenning syndrome in an Indian patient.

Identification of Inhibitors Based on Molecular Docking: Thyroid Hormone Transmembrane Transporter MCT8 as a Target.

Thyroid Hormone Transporters.

Tissue-Specific Function of Thyroid Hormone Transporters: New Insights from Mouse Models.

In Vitro Characterization of Human, Mouse, and Zebrafish MCT8 Orthologues.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Triac in the treatment of Allan-Herndon-Dudley syndrome.

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Laparoscopic Management of Choledochal Cysts Associated with Aberrant Hepatic Ducts.

Modeling the Biochemical Phenotype of MCT8 Mutations In Vitro: Resolving a Troubling Inconsistency.

Female-restricted syndromic intellectual disability in a patient from Thailand.

Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.

Drosophila as a Model for Assessing the Function of RNA-Binding Proteins during Neurogenesis and Neurological Disease.

[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism.

Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.

Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome.

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.

Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome.

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.

From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development.

Wieacker-Wolff syndrome with associated cleft palate in a female case.

Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.

Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Disorder of thyroid hormone transport into the tissues.

ZC4H2 deletions can cause severe phenotype in female carriers.

Zebrafish - An emerging model to explore thyroid hormone transporters and psychomotor retardation.

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

Ocular manifestations in the X-linked intellectual disability syndromes.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome.

MCT8 deficiency in Purkinje cells disrupts embryonic chicken cerebellar development.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome.

Creatine biosynthesis and transport in health and disease.

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.

[The importance of thyroid hormone transporters].

MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms.

Treatment of congenital thyroid dysfunction: Achievements and challenges.

mRNA metabolism and neuronal disease.

Thyroid hormone transporters--functions and clinical implications.

The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].