Mechanisms of disease in hereditary sensory and autonomic neuropathies. - sprookjes - yvandenbroek - TriplyDB

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

http://www.wikidata.org/entity/Q34249122

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The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management Membrane-shaping disorders: a common pathway in axon degeneration The clinical approach to small fibre neuropathy and painful channelopathy Nerve growth factor-mediated regulation of pain signalling and proposed new intervention strategies in clinical pain management Functional Coupling with Cardiac Muscle Promotes Maturation of hPSC-Derived Sympathetic Neurons.TRKing down an old oncogene in a new era of targeted therapy A de novo gain-of-function mutation in SCN11A causes loss of pain perception A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.The puzzle of orthostatic tolerance in hereditary sensory and autonomic neuropathy, type IV.The pain interactome: connecting pain-specific protein interactions.A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report.Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype A sympathetic neuron autonomous role for Egr3-mediated gene regulation in dendrite morphogenesis and target tissue innervation.Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons.Effective gene expression in the rat dorsal root ganglia with a non-viral vector delivered via spinal nerve injection.Familial Dysautonomia: Mechanisms and Models Inherited neuropathies: clinical overview and update.Genes, molecules and patients--emerging topics to guide clinical pain research.New and developing drugs for the treatment of neuropathic pain in diabetes.Inherited neuropathies: an update.From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.Human genetic disorders of sphingolipid biosynthesis.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations Neuroblast differentiation during development and in neuroblastoma requires KIF1Bβ-mediated transport of TRKA.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

http://www.wikidata.org/entity/Q34249122

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name

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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type

label

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

@en

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

@nl

prefLabel

Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Nature Reviews Neurology

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Mechanisms of disease in hereditary sensory and autonomic neuropathies.

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Annelies Rotthier

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Jonathan Baets

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Katrien Janssens

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Vincent Timmerman

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Hereditary sensory neuropathy type I

Hereditary sensory and autonomic neuropathies: types II, III, and IV

Cytosolic chaperonin-containing t-complex polypeptide 1 changes the content of a particular subunit species concomitant with substrate binding and folding activities during the cell cycle

Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors

Functional characterization of Rab7 mutant proteins associated with Charcot-Marie-Tooth type 2B disease

A class of dynamin-like GTPases involved in the generation of the tubular ER network

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

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