Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life

Congenital Central Hypoventilation Syndrome

(2016) Aaron J. Charnay et al.   CHEST

Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import

(2016) Simona Di Lascio et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome

(2015) Hiroko Nobuta et al.   ACTA NEUROPATHOLOGICA

Area postrema undergoes dynamic postnatal changes in mice and humans

(2015) Hamza Numan Gokozan et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome

(2015) Tomoyuki Shimokaze et al.   JOURNAL OF HUMAN GENETICS

State-dependent control of breathing by the retrotrapezoid nucleus

(2015) Peter G.R. Burke et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neural Control of Breathing and CO2 Homeostasis

(2015) Patrice G. Guyenet et al.   NEURON

Ondine Undone

(2015) Eugene Nattie   NEW ENGLAND JOURNAL OF MEDICINE

Treatment of neuroblastoma in congenital central hypoventilation syndrome with aPHOX2Bpolyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

(2015) Amy E. Armstrong et al.   PEDIATRIC BLOOD & CANCER

Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation

(2015) Rehan Saiyed et al.   PEDIATRIC PULMONOLOGY

Impaired neural structure and function contributing to autonomic symptoms in congenital central hypoventilation syndrome

(2015) Ronald M. Harper et al.   Frontiers in Neuroscience

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome

(2014) Michael S. Carroll et al.   JOURNAL OF APPLIED PHYSIOLOGY

The role of pH-sensitive TASK channels in central respiratory chemoreception

(2014) Douglas A. Bayliss et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Phox2b-expressing retrotrapezoid neurons and the integration of central and peripheral chemosensory control of breathing in conscious rats

(2013) Ana C. Takakura et al.   EXPERIMENTAL PHYSIOLOGY

Acute exercise-induced activation of Phox2b-expressing neurons of the retrotrapezoid nucleus in rats may involve the hypothalamus

(2013) B.F. Barna et al.   NEUROSCIENCE

Germline mosaicism ofPHOX2Bmutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

(2012) Casey M. Rand et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death

(2012) Anna M. Lavezzi et al.   AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

(2012) Mayumi Nagashimada et al.   JOURNAL OF CLINICAL INVESTIGATION

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome

(2012) Toru Meguro et al.   JOURNAL OF HUMAN GENETICS

Progressive gray matter changes in patients with congenital central hypoventilation syndrome

(2012) Rajesh Kumar et al.   PEDIATRIC RESEARCH

Decreased Cortical Thickness in Central Hypoventilation Syndrome

(2011) P. M. Macey et al.   CEREBRAL CORTEX

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

(2011) Tiziana Bachetti et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Phox2b-Expressing Neurons of the Parafacial Region Regulate Breathing Rate, Inspiration, and Expiration in Conscious Rats

(2011) S. B. G. Abbott et al.   JOURNAL OF NEUROSCIENCE

Breathing without CO2 Chemosensitivity in Conditional Phox2b Mutants

(2011) N. Ramanantsoa et al.   JOURNAL OF NEUROSCIENCE

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

(2011) Eleonora Di Zanni et al.   NEUROBIOLOGY OF DISEASE

Variable human phenotype associated with novel deletions of the PHOX2B gene

(2011) Lawrence J. Jennings et al.   PEDIATRIC PULMONOLOGY

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome

(2010) Debra E. Weese-Mayer et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Photostimulation of Phox2b Medullary Neurons Activates Cardiorespiratory Function in Conscious Rats

(2010) Roy Kanbar et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Comparison of PHOX2B Testing Methods in the Diagnosis of Congenital Central Hypoventilation Syndrome and Mosaic Carriers

(2010) Lawrence J. Jennings et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Congenital central hypoventilation syndrome and the PHOX2B gene: A model of respiratory and autonomic dysregulation

(2010) Pallavi P. Patwari et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Novel neuropathologic findings in the Haddad syndrome

(2009) Nestor D. Tomycz et al.   ACTA NEUROPATHOLOGICA

Photostimulation of Retrotrapezoid Nucleus Phox2b-Expressing Neurons In Vivo Produces Long-Lasting Activation of Breathing in Rats

(2009) S. B. G. Abbott et al.   JOURNAL OF NEUROSCIENCE

PHOX2B Immunolocalization of the Candidate Human Retrotrapezoid Nucleus

(2009) Erin Rudzinski et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

(2009) Debra E. Weese-Mayer et al.   PEDIATRIC PULMONOLOGY

Congenital central hypoventilation syndrome: Neurocognitive functioning in school age children

(2009) Frank A. Zelko et al.   PEDIATRIC PULMONOLOGY

PHOX2B in respiratory control: Lessons from congenital central hypoventilation syndrome and its mouse models

(2009) Jeanne Amiel et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Phox2b, RTN/pFRG neurons and respiratory rhythmogenesis

(2009) Hiroshi Onimaru et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in thePHOX2Bgene

(2008) Gabriela M Repetto et al.   ACTA PAEDIATRICA

Functional Neuroanatomy of the Noradrenergic Locus Coeruleus: Its Roles in the Regulation of Arousal and Autonomic Function Part II: Physiological and Pharmacological Manipulations and Pathological Alterations of Locus Coeruleus Activity in Humans

(2008) E. Samuels et al.   Current Neuropharmacology

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

(2008) V. Dubreuil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PHOX2BGermline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome

(2007) Delphine Trochet et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE