Hereditary spastic paraplegia (Q82516322)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

review article

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title

Hereditary spastic paraplegia (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

author name string

John K Fink

series ordinal

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

publication date

1 January 2006

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

Current Neurology and Neuroscience Reports

16 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

volume

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

issue

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

65-76

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16469273 AND SRC:MED&resulttype=core&format=json

Sensory neuropathy in hereditary spastic paraplegia

16 January 2020

cites work

1 reference

12 December 2020

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia

1 reference

12 December 2020

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

1 reference

12 December 2020

Visual, auditory and somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia

1 reference

12 December 2020

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

1 reference

12 December 2020

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

12 December 2020

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

1 reference

12 December 2020

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

1 reference

12 December 2020

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

1 reference

12 December 2020

Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy

1 reference

12 December 2020

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

1 reference

12 December 2020

The rumpshaker mutation in spastic paraplegia

1 reference

12 December 2020

Early-onset ALS with long-term survival associated with spastin gene mutation

1 reference

12 December 2020

The hereditary spastic paraplegias: nine genes and counting

1 reference

12 December 2020

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

1 reference

12 December 2020

Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.

1 reference

12 December 2020

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

1 reference

12 December 2020

Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy

1 reference

12 December 2020

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

1 reference

12 December 2020

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

12 December 2020

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

12 December 2020

Classification of the hereditary ataxias and paraplegias

1 reference

12 December 2020

Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis

1 reference

12 December 2020

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

1 reference

12 December 2020

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene

1 reference

12 December 2020

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

12 December 2020

Association of late onset spastic paraparesis and dementia: probably an autosomal dominant form of complicated paraplegia

1 reference

12 December 2020

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

1 reference

12 December 2020

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

1 reference

12 December 2020

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

1 reference

12 December 2020

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

1 reference

12 December 2020

Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene

1 reference

12 December 2020

Intrathecal baclofen for intractable cerebral spasticity: a prospective placebo-controlled, double-blind study

1 reference

12 December 2020

Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): identification of distinct genes and their differential expression in developing brain

1 reference

12 December 2020

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

1 reference

12 December 2020

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

1 reference

12 December 2020

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

1 reference

12 December 2020

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

1 reference

12 December 2020

Gait analysis of sporadic and hereditary spastic paraplegia

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12 December 2020

Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

1 reference

12 December 2020

Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

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12 December 2020

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24

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12 December 2020

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

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12 December 2020

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

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12 December 2020

Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function

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12 December 2020

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

12 December 2020

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

1 reference

12 December 2020

SPG3A: An additional family carrying a new atlastin mutation

1 reference

12 December 2020

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

1 reference

12 December 2020

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

12 December 2020

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

1 reference

12 December 2020

X-linked adrenoleukodystrophy presenting as autosomal dominant pure hereditary spastic paraparesis.

1 reference

12 December 2020

Evidence of a third locus in X-linked recessive spastic paraplegia

1 reference

12 December 2020

Strümpell Lorrain's familial spasmodic paraplegia. An anatomical and clinical review and report on a new case (author's transl)

1 reference

12 December 2020

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

1 reference

12 December 2020

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

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12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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12 December 2020

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

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12 December 2020

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

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12 December 2020

Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases.

1 reference

12 December 2020

Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

1 reference

12 December 2020

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

12 December 2020

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

1 reference

12 December 2020

Hereditary spastic paraplegias

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12 December 2020

Familial spastic paraplegia-clinical and pathologic studies in a large kindred

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12 December 2020

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

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12 December 2020

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p

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12 December 2020

Multisystem involvement of the central nervous system in Strümpell's disease. A neurophysiological and neuropsychological study

1 reference

12 December 2020

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

1 reference

12 December 2020

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

1 reference

12 December 2020

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

1 reference

12 December 2020

Prenatal diagnosis of hereditary spastic paraplegia

1 reference

12 December 2020

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

1 reference

12 December 2020

A quantitative study of sensory function in hereditary spastic paraplegia

1 reference

12 December 2020

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

1 reference

12 December 2020

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

1 reference

12 December 2020

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

1 reference

12 December 2020

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

1 reference

12 December 2020

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

1 reference

12 December 2020

Subtle cognitive impairment but no dementia in patients with spastin mutations

1 reference

12 December 2020

Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia

1 reference

12 December 2020

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

1 reference

12 December 2020

The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules

1 reference

12 December 2020

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy

1 reference

12 December 2020

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

12 December 2020

A study of posterior column function in familial spastic paraplegia

1 reference

12 December 2020

Treatable dystonia presenting as spastic cerebral palsy

1 reference

12 December 2020

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A

1 reference

12 December 2020

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

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12 December 2020

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

1 reference

12 December 2020

Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia

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12 December 2020

Neuropathy target esterase gene mutations cause motor neuron disease

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12 December 2020

Motor and somatosensory evoked potentials in hereditary spastic paraplegia

1 reference

12 December 2020

A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14.

1 reference

12 December 2020

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

1 reference

12 December 2020

Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2.

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12 December 2020

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

1 reference

12 December 2020

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

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12 December 2020

SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q.

1 reference

12 December 2020

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

1 reference

12 December 2020

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing

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12 December 2020

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease

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12 December 2020

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

12 December 2020

Effect of intrathecal baclofen on gait control in human hereditary spastic paraparesis

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12 December 2020

Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.

1 reference

12 December 2020

Familial spastic paraparesis: an adrenoleukodystrophy phenotype?

1 reference

12 December 2020

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders

1 reference

12 December 2020

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

1 reference

12 December 2020

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

1 reference

12 December 2020

Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q.

1 reference

12 December 2020

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

1 reference

12 December 2020

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

1 reference

12 December 2020

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

1 reference

12 December 2020

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

12 December 2020

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

1 reference

12 December 2020

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

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12 December 2020

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

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12 December 2020

Neuropathology: many paths lead to hereditary spastic paraplegia

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12 December 2020

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

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12 December 2020

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

1 reference

12 December 2020

Transcranial magnetic stimulation study in hereditary spastic paraparesis

1 reference

12 December 2020

Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation

1 reference

12 December 2020

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study

1 reference

12 December 2020

Intrathecal baclofen in hereditary spastic paraparesis

1 reference

12 December 2020

Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study

1 reference

12 December 2020

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

1 reference

12 December 2020