ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationInherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.A novel iterative mixed model to remap three complex orthopedic traits in dogsA case report of SPG11 mutations in a Chinese ARHSP-TCC familySevere muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106.Severe axonal neuropathy is a late manifestation of SPG11.Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.Recent advances in the genetic neuropathies.Towards a functional pathology of hereditary neuropathies.High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.Neuronal lysosomes.SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
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P2860
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@en
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@nl
type
label
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@en
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@nl
prefLabel
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@en
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@nl
P2093
P2860
P50
P356
P1433
P1476
ALS5/SPG11/KIAA1840 mutations ...... l Charcot-Marie-Tooth disease.
@en
P2093
Antonella Casella
Celeste Montecchiani
Fabrizio Gaudiello
José L Pedroso
Lucia Pedace
Marzia Mearini
P2860
P356
10.1093/BRAIN/AWV320
P407
P50
P577
2015-11-10T00:00:00Z