Huntington disease and the abuse of genetics, Am J Hum Genet, vol.50, issue.3, pp.460-464, 1992. ,
Huntington's disease, Semin Neurol, vol.27, issue.2, pp.143-150, 2007. ,
Huntingtin protein colocalizes with lesions of neurodegenerative diseases: an investigation in Huntington's, Alzheimer's, and Pick's diseases, Exp Neurol, vol.150, issue.2, pp.213-222, 1998. ,
Beyond the brain: widespread pathology in Huntington's disease, Lancet Neurol, vol.8, issue.8, pp.765-774, 2009. ,
Huntington's disease: a clinical review, Orphanet J Rare Dis, vol.5, p.40, 2010. ,
Aspiration pneumonia and death in Huntington's disease, PLoS Curr, vol.4, p.1293, 2012. ,
Dysphagia in Huntington's disease: a review, Dysphagia, vol.26, issue.1, pp.62-66, 2011. ,
Interventions for dysphagia in long-term, progressive muscle disease, Cochrane Database Syst Rev, vol.2, p.4303, 2016. ,
Management of respiratory problems in people with neurodegenerative conditions(1): a narrative review, Physiotherapy, vol.98, issue.1, pp.1-12, 2012. ,
Respiratory problems in neurologic movement disorders, Parkinsonism Relat Disord, vol.16, issue.10, pp.628-638, 2010. ,
Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study, Clin Rehabil, vol.21, issue.7, pp.603-613, 2007. ,
Physical therapy intervention for people with Huntington disease, Phys Ther, vol.88, issue.7, pp.820-831, 2008. ,
Pulmonary function in patients with Huntington's disease, BMC Pulm Med, vol.14, p.89, 2014. ,
Mechanisms of neurodegeneration in Huntington's disease, Eur J Neurosci, vol.27, issue.11, pp.2803-2820, 2008. ,
Cardiac dysautonomia in Huntington's disease, J Huntingtons Dis, vol.2, issue.3, pp.251-261, 2013. ,
Causes of death in Huntington's disease, Med J Aust, vol.1, issue.4, p.153, 1982. ,
Huntington disease: genetics and epidemiology, Am J Hum Genet, vol.36, issue.3, pp.506-526, 1984. ,
Causes of death in Huntington disease as reported on death certificates, Genet Epidemiol, vol.3, issue.6, pp.417-423, 1986. ,
Huntington's disease mortality in the United States, Neurology, vol.38, issue.5, pp.769-772, 1988. ,
Causes of death in patients with Huntington's disease and in unaffected first degree relatives, J Med Genet, vol.29, issue.12, pp.911-914, 1992. ,
Aspiration pneumonia and death in Huntington's disease, PLoS Curr, vol.4, p.1293, 2012. ,
Proteomic analysis of the human brain in Huntington's Disease indicates pathogenesis by molecular processes linked to other neurodegenerative diseases and to type-2 diabetes, J Huntingtons Dis, vol.2, issue.1, pp.89-99, 2013. ,
Electrocardiogram abnormalities suggest aberrant cardiac conduction in Huntington's disease, Mov Disord Clin Pract, vol.5, issue.3, pp.306-311, 2018. ,
Autonomic nervous system function in Huntington's disease, J Neurol Neurosurg Psychiatry, vol.72, issue.6, pp.726-731, 2002. ,
Cardiovagal modulation upon postural change is altered in Huntington's disease, Eur J Neurol, vol.15, issue.8, pp.869-871, 2008. ,
Autonomic nervous function in Huntington's disease, Arch Neurol, vol.45, issue.3, pp.309-312, 1988. ,
Sympathetic skin response and heart rate variability in patients with Huntington disease, Arch Neurol, vol.56, issue.10, pp.1248-1252, 1999. ,
Autonomic dysfunction in presymptomatic and early symptomatic Huntington's disease, Acta Neurol Scand, vol.121, issue.6, pp.392-399, 2010. ,
Reconstituting corticostriatal network on-a-chip reveals the contribution of the presynaptic compartment to Huntington's disease, Cell Rep, vol.22, issue.1, pp.110-122, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-02091323
Synaptopathic mechanisms of neurodegeneration and dementia: insights from Huntington's disease, Prog Neurobiol, vol.153, pp.18-45, 2017. ,
Cortical axonal secretion of BDNF in the striatum is disrupted in the mutant-huntingtin knock-in mouse model of Huntington's disease, Exp Neurobiol, vol.27, issue.3, pp.217-225, 2018. ,
Decreased BDNF release in cortical neurons of a knock-in mouse model of Huntington's disease, Sci Rep, vol.8, issue.1, p.16976, 2018. ,
Mitochondrial dysfunction in Huntington's disease, Adv Exp Med Biol, vol.1049, pp.59-83, 2018. ,
Mitochondrial quality control in neurodegenerative diseases: focus on Parkinson's disease and Huntington's disease, Front Neurosci, vol.12, p.342, 2018. ,
Calcium signaling and neurodegenerative diseases, Trends Mol Med, vol.15, issue.3, pp.89-100, 2009. ,
Corticostriatal circuit dysfunction in Huntington's disease: intersection of glutamate, dopamine and calcium, Future Neurol, vol.5, issue.5, pp.735-756, 2010. ,
Striatal synaptic dysfunction and altered calcium regulation in Huntington disease, Biochem Biophys Res Commun, vol.483, issue.4, pp.1051-1062, 2017. ,
Modulation of type 1 inositol (1,4,5)-trisphosphate receptor function by protein kinase a and protein phosphatase 1alpha, J Neurosci, vol.23, issue.2, pp.403-415, 2003. ,
Enhanced store-operated calcium entry leads to striatal synaptic loss in a Huntington's disease mouse model, J Neurosci, vol.36, issue.1, pp.125-141, 2016. ,
Calcium leak through ryanodine receptor is involved in neuronal death induced by mutant huntingtin, Biochem Biophys Res Commun, vol.429, issue.1-2, pp.18-23, 2012. ,
Tetrabenazine facilitates exocytosis by enhancing calcium-induced calcium release through ryanodine receptors, J Pharmacol Exp Ther, vol.371, issue.1, pp.219-230, 2019. ,
Mitochondrial distribution violation and nuclear indentations in neurons differentiated from iPSCs of Huntington's disease patients, J Stem Cells Regen Med, vol.14, issue.2, pp.80-85, 2018. ,
Intracellular calcium release channel expression during embryogenesis, Dev Biol, vol.206, issue.2, pp.163-177, 1999. ,
Ryanodine receptor structure and function in health and disease, Subcell Biochem, vol.87, pp.329-352, 2018. ,
Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein, Cell, vol.77, issue.4, pp.513-523, 1994. ,
Molecular cloning and characterization of the ryanodine receptor/junctional channel complex cDNA from skeletal muscle sarcoplasmic reticulum, Proc Natl Acad Sci, vol.86, issue.22, pp.8683-8687, 1989. ,
PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts, Cell, vol.101, issue.4, pp.365-376, 2000. ,
Ryanodine receptor type 3: why another ryanodine receptor isoform?, Front Biosci, vol.8, pp.176-182, 2003. ,
Regulation of calcium channel expression in neonatal myocytes by catecholamines, J Clin Invest, vol.97, issue.3, pp.656-663, 1996. ,
Regulation of ryanodine receptors via macromolecular complexes: a novel role for leucine/ isoleucine zippers, Trends Cardiovasc Med, vol.12, issue.4, pp.166-170, 2002. ,
Localization of the high and low affinity [3H]ryanodine binding sites on the skeletal muscle Ca2+ release channel, J Biol Chem, vol.269, issue.22, pp.15876-15884, 1994. ,
Mitochondrial oxidative stress promotes atrial fibrillation, Sci Rep, vol.5, p.11427, 2015. ,
Genetically enhancing mitochondrial antioxidant activity improves muscle function in aging, Proc Natl Acad Sci, vol.111, issue.42, pp.15250-15255, 2014. ,
Role of leaky neuronal ryanodine receptors in stress-induced cognitive dysfunction, Cell, vol.150, issue.5, pp.1055-1067, 2012. ,
Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias, Cell, vol.123, issue.1, pp.25-35, 2005. ,
Role of chronic ryanodine receptor phosphorylation in heart failure and ?-adrenergic receptor blockade in mice, J Clin Invest, vol.120, issue.12, pp.4375-4387, 2010. ,
Role of CaMKIIdelta phosphorylation of the cardiac ryanodine receptor in the force frequency relationship and heart failure, Proc Natl Acad Sci, vol.107, issue.22, pp.10274-10279, 2010. ,
Post-translational remodeling of ryanodine receptor induces calcium leak leading to Alzheimer's disease-like pathologies and cognitive deficits, Acta Neuropathol, vol.134, issue.5, pp.749-767, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01832793
Defects in ryanodine receptor calcium release in skeletal muscle from post-myocardial infarct rats, FASEB J, vol.17, issue.11, pp.1517-1519, 2003. ,
Amyloid ? production is regulated by ?2-adrenergic signaling-mediated post-translational modifications of the ryanodine receptor, J Biol Chem, vol.292, issue.24, pp.10153-10168, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01827807
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle, Nat Med, vol.15, issue.3, pp.325-330, 2009. ,
Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity, Proc Natl Acad Sci U S A, vol.105, issue.6, pp.2198-2202, 2008. ,
Stressed out: the skeletal muscle ryanodine receptor as a target of stress, J Clin Invest, vol.118, issue.2, pp.445-453, 2008. ,
Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging, Cell Metab, vol.14, issue.2, pp.196-207, 2011. ,
Leaky ryanodine receptors in ?-sarcoglycan deficient mice: a potential common defect in muscular dystrophy, Skelet Muscle, vol.2, issue.1, p.9, 2012. ,
Dantrolene is neuroprotective in Huntington's disease transgenic mouse model, Mol Neurodegener, vol.6, p.81, 2011. ,
The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues, J Cell Biol, vol.128, issue.5, pp.893-904, 1995. ,
Cognitive functions and corticostriatal circuits: insights from Huntington's disease, Trends Cogn Sci, vol.2, issue.10, pp.379-388, 1998. ,
The role of the basal ganglia in learning and memory: neuropsychological studies, Behav Brain Res, vol.199, issue.1, pp.53-60, 2009. ,
Calcium leak through ryanodine receptors leads to atrial fibrillation in 3 mouse models of catecholaminergic polymorphic ventricular tachycardia, Circ Res, vol.111, issue.6, pp.708-717, 2012. ,
Essential roles of intracellular calcium release channels in muscle, brain, metabolism, and aging, Curr Mol Pharmacol, vol.8, issue.2, pp.206-222, 2015. ,
Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippers, J Cell Biol, vol.153, issue.4, pp.699-708, 2001. ,
C1 neurons: the body's EMTs, Am J Physiol Regul Integr Comp Physiol, vol.305, issue.3, pp.187-204, 2013. ,
Short-term variability in QT interval and ventricular arrhythmias induced by dofetilide are dependent on high-frequency autonomic oscillations, Br J Pharmacol, vol.172, issue.11, pp.2878-2891, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01764951
Heart rate variability in mice: a theoretical and practical guide, Exp Physiol, vol.93, issue.1, pp.83-94, 2008. ,
Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2, Science, vol.304, issue.5668, pp.292-296, 2004. ,
Use of the Speckle tracking method for determining global parameters of heart contractility in healthy individuals, MethodsX, vol.5, pp.125-135, 2018. ,
Leaky ryanodine receptors contribute to diaphragmatic weakness during mechanical ventilation, Proc Natl Acad Sci U S A, vol.113, issue.32, pp.9069-9074, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01800610
The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation, J Biol Chem, vol.270, issue.6, pp.2833-2840, 1995. ,
Calcium leak through ryanodine receptor is involved in neuronal death induced by mutant huntingtin, Biochem Biophys Res Commun, vol.429, issue.1-2, pp.18-23, 2012. ,
Resistance to NMDA toxicity correlates with appearance of nuclear inclusions, behavioural deficits and changes in calcium homeostasis in mice transgenic for exon 1 of the huntington gene, Eur J Neurosci, vol.14, issue.9, pp.1492-1504, 2001. ,
CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca 2+ release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy, Biochem Biophys Res Commun, vol.496, issue.4, pp.1250-1256, 2018. ,
Increased oxidative stress and CaMKII activity contribute to electro-mechanical defects in cardiomyocytes from a murine model of Huntington's disease, FEBS J, vol.286, issue.1, pp.110-123, 2019. ,
Biphasic developmental changes in Ca2+/calmodulin-dependent proteins in R6/2 Huntington's disease mice, Neuroreport, vol.13, issue.5, pp.707-711, 2002. ,
Assessing mitochondrial function in in vitro and ex vivo models of Huntington's disease, Methods Mol Biol, vol.1780, pp.415-442, 2018. ,
Conditions associated with Huntington's disease at death. A case-control study, Arch Neurol, vol.45, issue.8, pp.878-880, 1988. ,
Dorsal motor nucleus of the vagus: a site for evoking simultaneous changes in crural diaphragm activity, lower esophageal sphincter pressure, and fundus tone, Am J Physiol Regul Integr Comp Physiol, vol.294, issue.1, pp.121-131, 2008. ,
The central autonomic network: functional organization, dysfunction, and perspective, Mayo Clin Proc, vol.68, issue.10, pp.988-1001, 1993. ,
Autonomic symptoms in patients and pre-manifest mutation carriers of Huntington's disease, Eur J Neurol, vol.17, issue.8, pp.1068-1074, 2010. ,
Early sympathetic hyperactivity in Huntington's disease, Eur J Neurol, vol.11, issue.12, pp.842-848, 2004. ,
Autonomic modulation of electrical restitution, alternans and ventricular fibrillation initiation in the isolated heart, Cardiovasc Res, vol.73, issue.4, pp.750-760, 2007. ,
Brainstem respiratory networks: building blocks and microcircuits, Trends Neurosci, vol.36, issue.3, pp.152-162, 2013. ,
Ventilation during air breathing and in response to hypercapnia in 5 and 16 month-old mdx and C57 mice, J Muscle Res Cell Motil, vol.28, issue.1, pp.29-37, 2007. ,
URL : https://hal.archives-ouvertes.fr/inserm-00150629
The effect of respiratory muscle training with CO2 breathing on cellular adaptation of mdx mouse diaphragm, Neuromuscul Disord, vol.15, issue.6, pp.427-436, 2005. ,
URL : https://hal.archives-ouvertes.fr/inserm-00149357
Huntington's disease gene (IT15) is widely expressed in human and rat tissues, Neuron, vol.11, issue.5, pp.985-993, 1993. ,
Characterization and localization of the Huntington disease gene product, Hum Mol Genet, vol.2, issue.12, pp.2069-2073, 1993. ,
Catecholaminergic C3 neurons are sympathoexcitatory and involved in glucose homeostasis, J Neurosci, vol.34, issue.45, pp.15110-15122, 2014. ,
Excessive respiratory modulation of blood pressure triggers hypertension, Cell Metab, vol.25, issue.3, pp.739-748, 2017. ,
Diaphragm muscle atrophy in the mouse after long-term mechanical ventilation, Muscle Nerve, vol.48, issue.2, pp.272-278, 2013. ,
Rapid onset of specific diaphragm weakness in a healthy murine model of ventilator-induced diaphragmatic dysfunction, Anesthesiology, vol.117, issue.3, pp.560-567, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-02542140
Object recognition in rats and mice: a one-trial non-matching-to-sample learning task to study 'recognition memory, Nat Protoc, vol.1, issue.3, pp.1306-1311, 2006. ,
Dissociation between components of spatial memory in rats after recovery from the effects of retrohippocampal lesions, Exp Brain Res, vol.58, issue.1, pp.11-28, 1985. ,
Effect of pyridostigmine on in vivo and in vitro respiratory muscle of mdx mice, Respir Physiol Neurobiol, vol.243, pp.107-114, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01760717
Low-fat diet with caloric restriction reduces white matter microglia activation during aging, Front Mol Neurosci, vol.11, p.65, 2018. ,
Interplay between triadin and calsequestrin in the pathogenesis of CPVT in the mouse, Mol Ther, vol.28, issue.1, pp.171-179, 2020. ,
URL : https://hal.archives-ouvertes.fr/hal-02290491
Loss of the transcription factor Meis1 prevents sympathetic neurons target-field innervation and increases susceptibility to sudden cardiac death, Elife, vol.5, p.11627, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01781492
Neurocardiovascular deficits in the Q175 mouse model of Huntington's disease, Physiol Rep, vol.5, issue.11, p.13289, 2017. ,