(Q38110760)

29 August 2017

title

Genetic diseases: congenital central hypoventilation, Rett, and Prader-Willi syndromes (English)

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29 August 2017

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Jorge Gallego

1

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29 August 2017

publication date

1 July 2012

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29 August 2017

published in

Comprehensive Physiology

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29 August 2017

volume

2

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29 August 2017

issue

3

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29 August 2017

page(s)

2255-2279

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Correction of respiratory disorders in a mouse model of Rett syndrome.

29 August 2017

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Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice

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Respiratory physiology of seizures

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Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome

21 January 2018

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Treatment-induced prevention of learning deficits in newborn mice with brain lesions

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Olfactory classical conditioning in newborn mice.

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Melatonin prevents learning disorders in brain-lesioned newborn mice.

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Acute role of the brain-derived neurotrophic factor (BDNF) on the respiratory neural network activity in mice in vitro

21 January 2018

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

21 January 2018

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Alanine tracts: the expanding story of human illness and trinucleotide repeats

21 January 2018

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Phox2 genes - from patterning to connectivity

21 January 2018

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RET proto-oncogene is important for the development of respiratory CO2 sensitivity.

21 January 2018

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Experimental models of Rett syndrome based on Mecp2 dysfunction.

21 January 2018

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Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation

21 January 2018

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21 January 2018

Prader-Willi syndrome.

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MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein?

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

The story of Rett syndrome: from clinic to neurobiology

21 January 2018

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The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression.

21 January 2018

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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

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Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

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Reversibility of functional deficits in experimental models of Rett syndrome.

21 January 2018

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

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Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

21 January 2018

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Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways.

21 January 2018

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Chiari malformation and sleep related breathing disorders.

21 January 2018

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The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome

21 January 2018

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Substance P immunoreactivity in Rett syndrome

21 January 2018

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SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice

21 January 2018

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Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models

21 January 2018

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21 January 2018

Breathing with phox2b

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Deaths in children with Prader-Willi syndrome. A contribution to the debate about the safety of growth hormone treatment in children with PWS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Abnormal general movements in girls with Rett disorder: the first four months of life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Is the early development of girls with Rett disorder really normal?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

MECP2 abnormality phenotypes: clinicopathologic area with broad variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Looking for inspiration: new perspectives on respiratory rhythm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The Last Word: Point:Counterpoint authors respond to commentaries on "the parafacial respiratory group (pFRG)/pre-Botzinger complex (preBotC) is the primary site of respiratory rhythm generation in the mammal".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Respiratory patterns during sleep in Down's syndrome:importance of central apnoeas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

PHOX2B mutations and ventilatory control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Disruption of the mouse necdin gene results in early post-natal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett's syndrome: characterization of respiratory patterns and sleep

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Epilepsy and the natural history of Rett syndrome.

21 January 2018

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Prader-Willi syndrome: advances in genetics, pathophysiology and treatment

21 January 2018

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Recommendations for the diagnosis and management of Prader-Willi syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Transcriptional control of neurotransmitter phenotype

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Central chemoreception: lessons from mouse and human genetics

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Specification of catecholaminergic and serotonergic neurons.

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Sleep-disordered breathing in Chiari malformation type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Effect of topiramate on seizures and respiratory dysrhythmia in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Congenital central hypoventilation syndrome: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Dynamic expression of the murine Achaete-Scute homologue Mash-1 in the developing nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Retrotrapezoid nucleus and parafacial respiratory group

21 January 2018

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Central CO2 chemoreception and integrated neural mechanisms of cardiovascular and respiratory control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Models of white matter injury: comparison of infectious, hypoxic-ischemic, and excitotoxic insults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Effects of movement and work load in patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Congenital central hypoventilation syndrome in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The role of serotonin in respiratory function and dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Recent advances in MeCP2 structure and function

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Medullary serotonin neurons and their roles in central respiratory chemoreception.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Glial cell line-derived neurotrophic factor (GDNF) is required for differentiation of pontine noradrenergic neurons and patterning of central respiratory output

21 January 2018

1 reference

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Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse

21 January 2018

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TRH therapy in a patient with juvenile Alexander disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FCPHY.C100037

Postnatal changes in serotonergic innervation to the hippocampus of methyl-CpG-binding protein 2-null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Novel data supporting the two respiratory rhythm oscillator hypothesis. Focus on "respiration-related rhythmic activity in the rostral medulla of newborn rats".

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Central nervous system distribution of the transcription factor Phox2b in the adult rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Neuronal growth factors and development of respiratory control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Guidelines for reporting clinical features in cases with MECP2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The imprinted gene Magel2 regulates normal circadian output.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Emergence of brain-derived neurotrophic factor-induced postsynaptic potentiation of NMDA currents during the postnatal maturation of the Kolliker-Fuse nucleus of rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Reduced caudate nuclei volumes in patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Diffusion tensor imaging demonstrates brainstem and cerebellar abnormalities in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rostral brain axonal injury in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Selectively diminished corpus callosum fibers in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Endothelin in the central control of cardiovascular and respiratory functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Prader-Willi syndrome transcripts are expressed in phenotypically significant regions of the developing mouse brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: biogenic amines and metabolites in postmortem brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Hypercapnic arousal responses in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

MASH1 maintains competence for BMP2-induced neuronal differentiation in post-migratory neural crest cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Alternative therapeutic intervention for individuals with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Assistive technology and supplementary treatment for individuals with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The bHLH transcription factor hand2 is essential for noradrenergic differentiation of sympathetic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Medical and psychosocial outcome of children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Regionally reduced brain volume, altered serotonin neurochemistry, and abnormal behavior in mice null for the circadian rhythm output gene Magel2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Temporal shift in methyl-CpG binding protein 2 expression in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Early childhood obesity is associated with compromised cerebellar development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Remodelling of the respiratory network in a mouse model of Rett syndrome depends on brain-derived neurotrophic factor regulated slow calcium buffering.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Tachykinins and central respiratory activity: an in vitro study on the newborn rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Renal and neuronal abnormalities in mice lacking GDNF

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Normal ventilation and ventilatory responses to chemical stimuli in juvenile mutant mice deficient in endothelin-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Central chemosensitivity, sleep, and wakefulness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

CO2 dialysis in nucleus tractus solitarius region of rat increases ventilation in sleep and wakefulness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Thyrotropin-releasing hormone has stimulatory effects on ventilation in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Epilepsy in Rett syndrome---the experience of a National Rett Center

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Sleep and breathing in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Breathing dysfunction in Rett syndrome: understanding epigenetic regulation of the respiratory network

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Central autonomic regulation in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ventilatory response to exercise in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Hypoxic and hypercapnic ventilatory responses in awake children with congenital central hypoventilation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Specification of the central noradrenergic phenotype by the homeobox gene Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Substance P-mediated modulation of pacemaker properties in the mammalian respiratory network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Clinical trials and treatment prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: recent research progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: controlled study of an oral opiate antagonist, naltrexone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: North American database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ondine curse and neurocristopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Effect of menopause on the chemical control of breathing and its relationship with acid-base status.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The murine neurokinin NK1 receptor gene contributes to the adult hypoxic facilitation of ventilation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Substance P and central respiratory activity: a comparative in vitro study on foetal and newborn rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Cellular and synaptic effect of substance P on neonatal phrenic motoneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Determinants of inspiratory activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Neuroanatomy of Rett syndrome: a volumetric imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ampakines alleviate respiratory depression in rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Disturbances in cardiorespiratory function during day and night in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Biogenic amines in Rett syndrome: the usual suspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The area postrema of newborn swine is activated by hypercapnia: relevance to sudden infant death syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Evidence for abnormal early development in a mouse model of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Molecular analysis of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Respiratory control in children with Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Human corticotropin-releasing hormone and thyrotropin-releasing hormone modulate the hypercapnic ventilatory response in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ventilatory responses to exercise in humans lacking ventilatory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Early postnatal changes in respiratory activity in rat in vitro and modulatory effects of substance P.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Congenital central hypoventilation syndrome: cardiorespiratory responses to moderate exercise, simulating daily activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Neuropsychologic abnormalities in children with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Management of a severe forceful breather with Rett syndrome using carbogen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Birth prevalence of Prader-Willi syndrome in Australia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Brainstem projections to the major respiratory neuron populations in the medulla of the cat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The cellular function of MASH1 in autonomic neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Hyperventilation in the awake state: potentially treatable component of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Respiratory sensations during heavy exercise in subjects without respiratory chemosensitivity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Mother-daughter transmission of congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Prader-Willi syndrome: who can have growth hormone?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Expression of Phox2b by brainstem neurons involved in chemosensory integration in the adult rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The ups and downs of BDNF in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Genetic identification of an embryonic parafacial oscillator coupling to the preBötzinger complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Evidence supporting a role of serotonin in modulation of sudden death induced by seizures in DBA/2 mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Abnormal serotonin receptor expression in DBA/2 mice associated with susceptibility to sudden death due to respiratory arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Phox2a gene, A6 neurons, and noradrenaline are essential for development of normal respiratory rhythm in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Ret deficiency in mice impairs the development of A5 and A6 neurons and the functional maturation of the respiratory rhythm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Norepinephrine differentially modulates different types of respiratory pacemaker and nonpacemaker neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Longitudinal brain MRI study in a mouse model of Rett Syndrome and the effects of choline

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Neurochemical changes in a mouse model of Rett syndrome: changes over time and in response to perinatal choline nutritional supplementation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: clinical review and genetic update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Rett syndrome: neurobiological changes underlying specific symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

FMRI responses to hyperoxia in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Brain developmental abnormalities in Prader-Willi syndrome detected by diffusion tensor imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Necdin plays a role in the serotonergic modulation of the mouse respiratory network: implication for Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Congenital central hypoventilation syndrome: neurocognitive functioning in school age children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Structural and functional brain abnormalities in Congenital Central Hypoventilation Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

Brain-derived neurotrophic factor acutely inhibits AMPA-mediated currents in developing sensory relay neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Central neural mechanisms of progesterone action: application to the respiratory system

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Neuronal deficits, not involving motor neurons, in mice lacking BDNF and/or NT4

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn mice

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Investigating Rett Syndrome Through Genetic Mouse Models: Presymptomatic, Clearly Symptomatic Phases, and Innovative Therapeutic Approaches

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor are required simultaneously for survival of dopaminergic primary sensory neurons in vivo.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Mice lacking brain-derived neurotrophic factor exhibit visceral sensory neuron losses distinct from mice lacking NT4 and display a severe developmental deficit in control of breathing.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Carotid body chemoreceptors: from natural stimuli to sensory discharges

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Absent peripheral chemosensitivity in Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Congenital central hypoventilation syndrome:PHOX2B genotype determines risk for sudden death

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Maturation of the mammalian respiratory system

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Positive modulation of AMPA receptors increases neurotrophin expression by hippocampal and cortical neurons.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

CSF and urine biogenic amine metabolites in Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Growth hormone treatment increases CO(2) response, ventilation and central inspiratory drive in children with Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

CO2 dialysis in the medullary raphe of the rat increases ventilation in sleep.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

A novel functional neuron group for respiratory rhythm generation in the ventral medulla.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

The obesity hypoventilation syndrome in children with the Prader-Willi syndrome: a possible role for familial decreased response to carbon dioxide

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Neurodevelopmental Abnormalities in the Brainstem of Prenatal Mice Lacking the Prader-Willi Syndrome Gene Necdin

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Effects of temperature on ventilatory response to hypercapnia in newborn mice heterozygous for transcription factor Phox2b

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Disturbances of breathing in Rett syndrome: results from patients and animal models

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Review of 64 cases of death in children with Prader-Willi syndrome (PWS)

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Expression of functional tyrosine kinase B receptors by rhythmically active respiratory neurons in the pre-Bötzinger complex of neonatal mice.

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

The expression pattern of the transcription factor Phox2 delineates synaptic pathways of the autonomic nervous system

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Early abnormalities of post-sigh breathing in a mouse model of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Idiopathic congenital central hypoventilation syndrome: diagnosis and management. American Thoracic Society

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Breathing deficits of the Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FCPHY.C100037

7 January 2021

Identifiers

DOI

10.1002/CPHY.C100037

1 reference

29 August 2017

1 reference