Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
about
Microtubule plus-end tracking proteins in neuronal developmentNemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Whole-exome sequencing of a pedigree segregating asthma.The actin-microtubule cross-linking activity of Drosophila Short stop is regulated by intramolecular inhibitionThe intricate relationship between microtubules and their associated motor proteins during axon growth and maintenance.Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyA novel MKRN3 missense mutation causing familial precocious puberty.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Cytoskeletal disruption activates the DLK/JNK pathway, which promotes axonal regeneration and mimics a preconditioning injury.Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS MyelinationDisruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Bullous pemphigoid and neurodegenerative diseases: a study in a setting of a Central European university dermatology departmentLoss of the spectraplakin short stop activates the DLK injury response pathway in Drosophila.Next-generation sequencing in understanding complex neurological diseaseA conceptual view at microtubule plus end dynamics in neuronal axons.Inherited neuropathies: clinical overview and update.Short stop mediates axonal compartmentalization of mucin-type core 1 glycans.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Reduced Proliferation of Oligodendrocyte Progenitor Cells in the Postnatal Brain of Dystonia Musculorum Mice.Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Spectraplakin family proteins - cytoskeletal crosslinkers with versatile roles.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.Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report.Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of DystoninHindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.Tau and spectraplakins promote synapse formation and maintenance through Jun kinase and neuronal trafficking.Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice.Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
P2860
Q26766239-9D23BC37-FDF6-4B23-B561-8BD32F9400DFQ28266463-9B36D43D-F635-47D4-9B38-667504C963D0Q29017135-640E8050-D85C-4640-A538-C5EC9F9455C6Q30382642-3F05EA28-581B-43CB-AC29-A9498CF82962Q30458323-094DA3F6-9B3F-4EA9-86C0-EF25FD06B32BQ30544681-1C97FCEF-6376-495F-B975-04C2008F1A3FQ30558304-4B35C0C9-2ADA-46A2-BFA5-FF3F0E8479C1Q33422033-E8023C65-B539-4590-AE20-0F80C0F4AE1AQ33620795-4F1F0DB8-0852-4AC9-B2D7-79471D77CF23Q34443581-CF8FFF64-9BDD-4DE8-A389-F73CBC11CA98Q34456701-96E92B9B-25FA-4B9E-9655-4ED026F1614AQ35472270-D07A2AA1-920B-4D00-8E41-AE06031057E3Q35926182-17EA2F62-B9FB-4E5B-8EC6-087F860E810EQ36111645-F0C6023B-447A-4328-B52A-A4DA417F7305Q36753688-8FDA265D-A19B-49EB-9CAD-0FDB9DF23446Q37059346-18F8ED93-9AE1-4EE0-B333-8602D3619B9DQ37282607-C418CC06-EE8C-43FC-BA71-246E2CEF4C42Q37331388-C3AFC2B5-4418-41BC-929B-F514324631BEQ37385728-9395AD9C-BBD1-46B8-B797-E884DA41AB99Q37571617-B7BCF383-4681-40F6-BC20-501BD2AEAE0BQ37620555-EFA2A37B-0A1B-476D-8B56-2DD464C95EBEQ38065979-08984AED-FBFF-4D2B-8581-A3899ED558C5Q38185070-23B566F4-7FF5-49E7-9676-E05EBE84C190Q38610792-A68A3755-D85A-4570-A8FF-009294EFD21BQ38701051-36BEC388-DB8B-4AD2-A0D2-8ABEFB6409E7Q38806472-CE03DF3F-73D3-4858-A5F7-F5F93C5C0E54Q38954277-80229841-89D5-4C2A-ABAA-BFD5AC1CFCC6Q39335586-7BE96E76-8183-462A-8F42-D1D496BAFC61Q39416143-13D5E971-41D8-453A-BC68-61C3A0FAF320Q40094277-E7359817-C46C-47DF-BC50-6FDE3AFCB3D3Q40103277-25B3E73B-B556-432B-B425-CBD0F893BF81Q40871094-B5FD9EC4-572F-4058-865D-5B7B9867BBC1Q41021742-6B19553D-ADD3-4540-8D9C-C92E41B7A149Q41929184-F13B5063-0496-4560-AFE4-FE5476734FC8Q42373637-B55DF643-E3B9-4F23-801B-3EC5ED170EA6Q42623377-17A5476A-9D88-4148-8A9E-15EC546C8A93Q45345293-F4D96F29-ECAC-465F-843A-B81AF3EEC1D0Q48559730-F2CEF0EC-DE5D-40FA-B0E2-FDD47E92169CQ50439927-417F6FFA-02F1-4DAE-A933-2E3C1069AA17Q52088815-C0119845-4DC5-48D5-91F6-78699EAF1DE0
P2860
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@en
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@nl
type
label
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@en
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@nl
prefLabel
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@en
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
@nl
P2093
P2860
P356
P1433
P1476
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
@en
P2093
Avraham Shaag
Channa Maayan
Felicia B Axelrod
Orly Elpeleg
Yuval Cinnamon
P2860
P304
P356
10.1002/ANA.23524
P577
2012-04-01T00:00:00Z