(Q37325080)

19 August 2017

1 reference

title

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms (English)

1 reference

hereditary spastic paraplegia

19 August 2017

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1 reference

2

Christos Proukakis

1 reference

19 August 2017

1

Sara Salinas

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author name string

Andrew Crosby

series ordinal

3

1 reference

PubMed ID

19007737

19 August 2017

Thomas T Warner

series ordinal

4

1 reference

19 August 2017

1 December 2008

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19 August 2017

1 reference

19 August 2017

7

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19 August 2017

1127-1138

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19 August 2017

12

1 reference

Hereditary spastic paraplegias

19 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Classification of the hereditary ataxias and paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Advances in the hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Clinical features of hereditary spastic paraplegia due to spastin mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

MRI of autosomal dominant pure spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Hereditary spastic paraplegias: an update

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Neuropathy target esterase gene mutations cause motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Subtle cognitive impairment but no dementia in patients with spastin mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

HSP60IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Response to Martignoni et al

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The neuropathology of hereditary spastic paraparesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Is the transportation highway the right road for hereditary spastic paraplegia?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Adaptors for clathrin coats: structure and function.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Molecular motors and mechanisms of directional transport in neurons

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The molecular motor toolbox for intracellular transport

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Message in a bottle: long-range retrograde signaling in the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The axonal transport of mitochondria.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Sumoylation in axons triggers retrograde transport of the RNA-binding protein La.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Kinesin heavy chain is essential for viability and neuromuscular functions in Drosophila, but mutants show no defects in mitosis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The genetics of axonal transport and axonal transport disorders

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

New movements in neurofilament transport, turnover and disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Cytoplasmic dynein and LIS1 are required for microtubule advance during growth cone remodeling and fast axonal outgrowth

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Axonal transport of microtubules: the long and short of it.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

SPG10 is a rare cause of spastic paraplegia in European families

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Human spastin has multiple microtubule-related functions

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Spastin and microtubules: Functions in health and disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A second leaky splice-site mutation in the spastin gene

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The microtubule-severing proteins spastin and katanin participate differently in the formation of axonal branches

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The hereditary spastic paraplegia protein spartin localises to mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Cloning of ACP33 as a novel intracellular ligand of CD4

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Structural and functional evolution of the L1 family: are four adhesion molecules better than one?

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2808%2970258-8

7 January 2021

10.1016/S1474-4422(08)70258-8

Identifiers

DOI

1 reference

19 August 2017

1 reference

PubMed ID

19007737