Strümpell's familial spastic paraplegia: genetics and neuropathology
about
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qAutosomal dominant familial spastic paraplegia: tight linkage to chromosome 15qMutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaDrosophila spastin regulates synaptic microtubule networks and is required for normal motor functionNeuropathology of Amyotrophic Lateral Sclerosis and Its Variants.Central motor conduction studies in hereditary spastic paraplegiaMotor and somatosensory evoked potentials in hereditary spastic paraplegiaHereditary "pure" spastic paraplegia: a study of nine families.Peroneal muscular atrophy with pyramidal featuresCerebellar degeneration in dominantly inherited spastic paraplegia.Pure hereditary spastic paraplegia.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Occurrence of familial spastic paraplegia in only one of monozygous twinsA new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.Hereditary spastic paraparesis: a review of new developments.A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.Is the transportation highway the right road for hereditary spastic paraplegia?TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutationAutosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.Magnetic resonance imaging in degenerative ataxic disordersPattern visual evoked responses in hereditary spastic paraplegia.Spinal somatosensory evoked potentials in hereditary spastic paraplegiaAlteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.A study of posterior column function in familial spastic paraplegiaStrumpell's pure familial spastic paraplegia: case study and review of the literature.Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).Characterization of kinesin switch I mutations that cause hereditary spastic paraplegia.[Familial spastic paraplegia with amyotrophy. Clinical, electromyographic, histochemical study and microdissection]Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices.Hereditary spastic paraplegia from 1880 to 2017: an historical review.The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
P2860
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P2860
Strümpell's familial spastic paraplegia: genetics and neuropathology
description
1974 nî lūn-bûn
@nan
1974 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1974 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1974年の論文
@ja
1974年論文
@yue
1974年論文
@zh-hant
1974年論文
@zh-hk
1974年論文
@zh-mo
1974年論文
@zh-tw
1974年论文
@wuu
name
Strümpell's familial spastic paraplegia: genetics and neuropathology
@ast
Strümpell's familial spastic paraplegia: genetics and neuropathology
@en
Strümpell's familial spastic paraplegia: genetics and neuropathology
@nl
type
label
Strümpell's familial spastic paraplegia: genetics and neuropathology
@ast
Strümpell's familial spastic paraplegia: genetics and neuropathology
@en
Strümpell's familial spastic paraplegia: genetics and neuropathology
@nl
prefLabel
Strümpell's familial spastic paraplegia: genetics and neuropathology
@ast
Strümpell's familial spastic paraplegia: genetics and neuropathology
@en
Strümpell's familial spastic paraplegia: genetics and neuropathology
@nl
P2860
P356
P1476
Strümpell's familial spastic paraplegia: genetics and neuropathology
@en
P2093
P2860
P356
10.1136/JNNP.37.1.8
P407
P577
1974-01-01T00:00:00Z