(Q37186867)

18 August 2017

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title

Recent advances in the genetics of spastic paraplegias (English)

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18 August 2017

3

Alexis Brice

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Giovanni Stevanin

object named as

Giovanni Stevanin

series ordinal

1

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Merle Ruberg

series ordinal

2

object named as

Merle Ruberg

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18 August 2017

1 May 2008

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Current Neurology and Neuroscience Reports

18 August 2017

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18 August 2017

8

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18 August 2017

3

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18 August 2017

198-210

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https://scigraph.springernature.com/pub.10.1007/s11910-008-0032-z

18 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0032-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0032-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0032-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0032-Z

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-008-0032-Z

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Human spastin has multiple microtubule-related functions

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

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

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

1 reference

12 December 2020

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

12 December 2020

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Spastic paraplegia 15: linkage and clinical description of three Tunisian families

1 reference

12 December 2020

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

12 December 2020

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

12 December 2020

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

1 reference

12 December 2020

Classification of the hereditary ataxias and paraplegias

1 reference

12 December 2020

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

1 reference

12 December 2020

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

1 reference

12 December 2020

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

1 reference

12 December 2020

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene

1 reference

12 December 2020

Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.

1 reference

12 December 2020

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

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

Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature

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

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

1 reference

12 December 2020

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

1 reference

12 December 2020

Disruption of the mouse L1 gene leads to malformations of the nervous system

1 reference

12 December 2020

Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Infantile onset of hereditary spastic paraplegia poorly predicts the genotype

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12 December 2020

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein

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

Inactivation of liver X receptor beta leads to adult-onset motor neuron degeneration in male mice

1 reference

12 December 2020

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

1 reference

12 December 2020

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

12 December 2020

Distal axonopathy in an alsin-deficient mouse model

1 reference

12 December 2020

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

1 reference

12 December 2020

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

1 reference

12 December 2020

The hereditary spastic paraplegia protein spartin localises to mitochondria

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

12 December 2020

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

1 reference

12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of a novel SPG3A deletion in a French-Canadian family.

1 reference

12 December 2020

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

1 reference

12 December 2020

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

1 reference

12 December 2020

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

1 reference

12 December 2020

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

12 December 2020

Mental deficiency in three families with SPG4 spastic paraplegia

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12 December 2020

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

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12 December 2020

Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities

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12 December 2020

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

1 reference

12 December 2020

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

1 reference

12 December 2020

Cytosolic heat shock protein 60, hypoxia, and apoptosis

1 reference

12 December 2020

Clinical features of hereditary spastic paraplegia due to spastin mutation

1 reference

12 December 2020

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

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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

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

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12 December 2020

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

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12 December 2020

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

12 December 2020

Hereditary spastic paraplegias: an update

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12 December 2020

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

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12 December 2020

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

1 reference

12 December 2020

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

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12 December 2020

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

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

Hereditary spastic paraplegia: clinical genetic study of 15 families.

1 reference

12 December 2020

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

1 reference

12 December 2020

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubules

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12 December 2020

Spastic paraplegia in Romania: high prevalence of SPG4 mutations

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12 December 2020

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

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12 December 2020

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Hereditary spastic paraplegia

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12 December 2020

OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria

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12 December 2020

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H

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12 December 2020

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

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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

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

1 reference

12 December 2020

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hereditary Spastic Paraplegia 3A Associated With Axonal Neuropathy

1 reference

12 December 2020

10.1007/S11910-008-0032-Z

Identifiers

DOI

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18 August 2017

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PubMed ID

18541115