Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
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Function Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishMitochondria-associated membranes as hubs for neurodegenerationMembrane-shaping disorders: a common pathway in axon degenerationWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesA novel mutation in VCP causes Charcot-Marie-Tooth Type 2 diseaseA dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyExtended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy.Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseA novel AARS mutation in a family with dominant myeloneuropathy.Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?Glial expression of Swiss cheese (SWS), the Drosophila orthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and functionElectrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).Proteolipid protein-deficient myelin promotes axonal mitochondrial dysfunction via altered metabolic coupling.Concepts for regulation of axon integrity by enwrapping glia.Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Ophthalmic manifestations of inherited neurodegenerative disorders.Disturbed mitochondrial dynamics and neurodegenerative disorders.Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseaseMutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.MGRN1-mediated ubiquitination of α-tubulin regulates microtubule dynamics and intracellular transport.Hereditary Neuropathies.Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Two novel MPZ mutations in Chinese CMT patients.
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P2860
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@en
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@nl
type
label
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@en
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@nl
prefLabel
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@en
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@nl
P1476
Overlapping molecular patholog ...... ereditary spastic paraplegias.
@en
P2093
Vincent Timmerman
Virginia E Clowes
P356
10.1016/J.EXPNEUROL.2012.01.010
P407
P50
P577
2012-01-18T00:00:00Z