Multiple System Atrophy Combined Outcome Assessment (MuSyCA): process, format, and validation plan.

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia.

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.

A Rare Co-Occurrence of Gastric Heterotopia and Autonomic Nervous System Dysfunction: An Attempt to Explain If There Is a Need to Explore Possible Syndromic Link.

Establishing minimally clinically important differences for the orthostatic hypotension questionnaire (OHQ).

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy.

AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report.

Spine surgery and complication in familial dysautonomia: a case report.

Advances in the treatment of familial dysautonomia: what does the future hold?

Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia.

Carbidopa: beyond Parkinson's disease.

Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia.

Laminin β4 is required for the development of human peripheral sensory neurons.

Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.

Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development.

Atomoxetine on neurogenic orthostatic hypotension: a randomized, double-blind, placebo-controlled crossover trial.

Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy.

Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model.

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis.

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

Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

Parasympathetic neurons derived from human pluripotent stem cells model human diseases and development.

Retrograde tubing as a rescue treatment for megaoesophagus: a case report.

Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies.

Specificity, synergy, and mechanisms of splice-modifying drugs.

Linking the Extended Autonomic System with the Homeostat Theory: New Perspectives about Dysautonomias.

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients.

Height, weight, and body mass index in patients with familial dysautonomia.

Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.

Long-Term Outcomes of Hyperadrenergic Orthostatic Hypotension.

Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.

Marine alkaloid rigidin analogues as potential selective inhibitors of SHP1, a new strategy for cancer immunotherapeutics.

The future of rare autonomic disease research.

Apparently rare cases are worth studying because….

Sensorimotor control in the congenital absence of functional muscle spindles.

Genipin Crosslinks the Extracellular Matrix to Rescue Developmental and Degenerative Defects, and Accelerates Regeneration of Peripheral Neurons.

A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations.

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.

Gastrointestinal bleeding in children with familial dysautonomia: a case-control study.

Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia.

Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models.

Elongator promotes neuritogenesis via regulation of tau stability through acly activity.

Experience With Dexmedetomidine Use in the Treatment of Dysautonomic Crisis in Familial Dysautonomia: An Off-Label Use.

Counter pressure maneuvers for syncope prevention: A semi-systematic review and meta-analysis.

Jaw-in-a-Riley-Day: Mandibular Free Flap Reconstruction With Virtual Surgical Planning in a Patient With Familial Dysautonomia.

Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.

Diagnosis and treatment of orthostatic hypotension.

Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia.

Engineered U1 snRNAs to modulate alternatively spliced exons.

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.

Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD.

A Closer Look at Familial Dysautonomia from a Social Communication Perspective: A Case Report and Review of Literature.

AAMR syndrome in a 22-month-old and literature review.

Elp1 is required for development of visceral sensory peripheral and central circuitry.

Neuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.

ATP-citrate lyase promotes axonal transport across species.

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway.

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia.

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms.

Uncommon side effects of common drugs in patients with familial dysautonomia.

Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II).

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.

Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.

Fludrocortisone for orthostatic hypotension.

Limitations of the Unified Multiple System Atrophy Rating Scale as outcome measure for clinical trials and a roadmap for improvement.

Derivation of Peripheral Nociceptive, Mechanoreceptive, and Proprioceptive Sensory Neurons from the same Culture of Human Pluripotent Stem Cells.

Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia.

Cytoprotective activities of kinetin purine isosteres.

Longitudinal changes in the macula and optic nerve in familial dysautonomia.

Genetically Established Familial Amyloidotic Polyneuropathy from India: Narrating the Diagnostic "Odyssey" and a Mini Review.

Frequency and burden of gastrointestinal symptoms in familial dysautonomia.

Von Economo Neuron Pathology in Familial Dysautonomia: Quantitative Assessment and Possible Implications.

Clinical and confocal imaging findings in congenital corneal anaesthesia.

Development of the Autonomic Nervous System: Clinical Implications.

Afferent Baroreflex Dysfunction: Decreased or Excessive Signaling Results in Distinct Phenotypes.

Acute Sensory and Autonomic Neuronopathy: A Devastating Disorder Affecting Sensory and Autonomic Ganglia.

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial.

The impact of supine hypertension on target organ damage and survival in patients with synucleinopathies and neurogenic orthostatic hypotension.

Elbow proprioception is normal in patients with a congenital absence of functional muscle spindles.

Retrograde nerve growth factor signaling abnormalities in familial dysautonomia.

(H)Elping nerve growth factor: Elp1 inhibits TrkA's phosphatase to maintain retrograde signaling.

Impact of a national genetic carrier-screening program for reproductive purposes.

Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification.

Generation of Neural Crest Progenitors from Human Pluripotent Stem Cells.

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.

Patient-Derived Induced Pluripotent Stem Cells for Alpha-1 Antitrypsin Deficiency Disease Modeling and Therapeutic Discovery.

Autonomic Neurons with Sympathetic Character Derived From Human Pluripotent Stem Cells.

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia.

Induced pluripotent stem cells for disease modeling, cell therapy and drug discovery in genetic autonomic disorders: a review.

Long-term outcome of using Prosthetic Replacement of Ocular Surface Ecosystem (PROSE) as a drug delivery system for bevacizumab in the treatment of corneal neovascularization.

Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study.

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.

Case Series: Management of Neurotrophic Keratitis from Familial Dysautonomia.

Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.

Orthostatic hypotension: does the heart rate matter? And other updates on recent autonomic research.

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Characteristics of ataxic gait in familial dysautonomia patients.

Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.

Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice.

Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome.

Identification of neuronal autophagy regulators: Combined use of iKAP and THANATOS.

Improvement of chronic corneal opacity in ocular surface disease with prosthetic replacement of the ocular surface ecosystem (PROSE) treatment.

Elongator complex is required for long-term olfactory memory formation in Drosophila.

Elongator and codon bias regulate protein levels in mammalian peripheral neurons.

Ambulatory blood pressure profiles in familial dysautonomia.

Structural insights into the function of Elongator.

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia.

A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia.

Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia.

Basic research and model systems in familial dysautonomia: What do we know and what's next?

Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia.

Animal and cellular models of familial dysautonomia.

RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.

Phosphatidylserine improves axonal transport by inhibition of HDAC and has potential in treatment of neurodegenerative diseases.

[ORO-DENTO-FACIAL MANIFESTATIONS IN PATIENTS WITH FAMILIAL DYSAUTONOMIA].

Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study.

BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.

Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia.

Familial dysautonomia: a disease with hidden tears.

Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia.

Modulation of aberrant splicing in human RNA diseases by chemical compounds.

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.

Genetic Polymorphisms in the ESR1 and VDR Genes Do Not Correlate With Osteoporosis in Patients With Familial Dysautonomia.

Caring for adolescents with familial dysautonomia.

Phosphatidylserine Ameliorates Neurodegenerative Symptoms and Enhances Axonal Transport in a Mouse Model of Familial Dysautonomia.

Unusual Structural Autonomic Disorders Presenting in Pediatrics: Disorders Associated with Hypoventilation and Autonomic Neuropathies.

Sleep Apnea in Familial Dysautonomia: A Reflection of Apnea Pathogenesis.

The Many Faces of Elongator in Neurodevelopment and Disease.

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia.

Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.

Poster 72 Teetering on the Edge: Rehabilitation in a Medically Complex Patient with Familial Dysautonomia (Hereditary Sensory Autonomic Neuropathy Type III): A Case Report.

Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia.

Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia.

Familial Dysautonomia: Mechanisms and Models.

Intestinal ischemia in neonates and children.

MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia.

[The function of autonomic nervous system during paroxysmal events in children and adolescents, and available diagnostic methods].

Familial dysautonomia: History, genotype, phenotype and translational research.

Tocotrienol Treatment in Familial Dysautonomia: Open-Label Pilot Study.

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Phosphatidylserine enhances IKBKAP transcription by activating the MAPK/ERK signaling pathway.

Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia.

Mother-induced hypertension in familial dysautonomia.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation".

Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation.

Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation.

Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?

Dimerization of elongator protein 1 is essential for Elongator complex assembly.

Increased frequency of rhabdomyolysis in familial dysautonomia.

Contemporary perioperative management of adult familial dysautonomia (Riley-Day syndrome).

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.