Spast Mutation

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in

Spastic paraplegia type 4 A novel SPAST splice site donor mutation and

The results of SPAST gene mutation analysis in index patient II3

Frontiers Novel de novo SPAST mutation in a Han Chinese SPG4 patient

Spastic paraplegia type 4 A novel SPAST splice site donor mutation and

Novel SPAST Deletion Mutation in an American Family With Hereditary

Spastic paraplegia type 4 A novel SPAST splice site donor mutation and

PDF A Novel SPAST Mutation Results in Spastin Accumulation and

Frontiers Novel de novo SPAST mutation in a Han Chinese SPG4 patient

PDF A Novel SPAST Mutation Results in Spastin Accumulation and

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in

PDF Hereditary Spastic Paraplegia with a Novel SPAST Mutation

Novel SPAST Deletion Mutation in an American Family With Hereditary

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in

The results of SPAST gene mutation analysis in index patient II3

Dominant negative effect as a novel mechanism of SPAST gene mutation in

Novel SPAST Deletion Mutation in an American Family With Hereditary

Schematic diagram of SPAST and ATL1 domains showing the location of the

De novo mutations in SPAST encoding spastin a SPAST functional domains

Truncating mutations of SPAST associated with hereditary spastic

Truncating mutations in SPAST patients are associated with a high rate

Aluspecific microhomologymediated deletion of the final exon of SPAST

Truncating mutations of SPAST associated with hereditary spastic

Frontiers Cohort analysis of novel SPAST variants in SPG4 patients

Schematic diagram of SPAST and ATL1 domains showing the location of the

Truncating mutations of SPAST associated with hereditary spastic

Frontiers A novel truncating variant of SPAST associated with

SPAST mutations detected in the current study Schematic representation

Transcriptional regulation of the SPAST gene encoding spastin SPG4

Organization of spastin and location of SPAST mutations identified in

SPAST mutations detected in the current study Schematic representation

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with

Functional analysis of novel mutations in SPAST gene a Schematic of

The pathogenicity of SPASTY52C mutation identified in a patient with

Tertiary structure alteration prediction of SPAST by RaptorX tool A

Pedigree of the investigated HSP family harbouring a novel SPAST gene

Pathogenic Mutation of Spastin Has GainofFunction Effects on

PDF Expansion of mutation spectrum determination of mutation cluster

The pathogenicity of SPASTY52C mutation identified in a patient with

A novel variant of SPAST in a pedigree with pure hereditary spastic

Schematic diagram of SPAST and ATL1 domains showing the location of the

Functional analysis of novel mutations in SPAST gene a Schematic of

Tertiary structure alteration prediction of SPAST by RaptorX tool A

Functional analysis of novel mutations in SPAST gene a Schematic of

Frontiers A novel truncating variant of SPAST associated with

Comparison between the mutational spectrum in SPAST gene of Russian

The pathogenicity of SPASTY52C mutation identified in a patient with

PDF Spastic paraplegia due to SPAST mutations is modified by the

Figure 1 from Dominant negative effect as a novel mechanism of SPAST

Aluspecific microhomologymediated deletion of the final exon of SPAST

Pathogenic Mutation of Spastin Has GainofFunction Effects on

PDF Mutation analysis of SPAST ATL1 and REEP1in korean patients

Truncating mutations of SPAST associated with hereditary spastic

Summary of findings in SPAST a SPAST protein with domains according to

The pathogenicity of SPASTY52C mutation identified in a patient with

Truncating mutations of SPAST associated with hereditary spastic

Functional analysis of novel mutations in SPAST gene a Schematic of

Truncating mutations of SPAST associated with hereditary spastic

Amplifying the spectrum of SPAST gene mutations PMC

Organization of spastin and location of SPAST mutations identified in

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a

Schematic diagram of SPAST and ATL1 domains showing the location of the

Summary of findings in SPAST a SPAST protein with domains according to

Schematic diagram of SPAST and ATL1 domains showing the location of the

The pathogenicity of SPASTY52C mutation identified in a patient with

Summary of findings in SPAST a SPAST protein with domains according to

Expanding Hereditary Spastic Paraplegias Limits Biallelic SPAST

CRISPRCas9 generated SPAST KO in HEK293T cells impairs SOCE A

Organization of spastin and location of SPAST mutations identified in

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch

Pathogenic Mutation of Spastin Has GainofFunction Effects on

Mutational Spectrum of Spast Spg4 and Atl1 Spg3a Genes In Russian

PPT Clinical Summary and Cognitive Function of SPG21 Patients

Therapeutic Strategies for Mutant SPASTBased Hereditary Spastic Paraplegia

Clinical and molecular characterization of hereditary spastic

Hereditary spastic paraplegia PPSX

Transcriptional and PostTranscriptional Regulation of SPAST the Gene

Chromatograms of four novel variants identified in SPAST SPG11 and

Frontiers Cortical Damage Associated With Cognitive and Motor

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo

Molecular Medicine Reports

SPG4 mutations identified in the study Download Scientific Diagram

Mutant spastin isoforms are differently distributed in primary cortical

A patientderived stem cell model of hereditary spastic paraplegia with

Magnetic resonance imaging MRI of the brain and spinal cord and

Genetic architecture of motor neuron diseases Journal of the

Comparison of clinical features between pure HSP groups with and

Magnetic resonance imaging MRI of the brain and spinal cord and

Molecular spectrum of the SPAST ATL1 and REEP1 gene mutations

PDF A patientderived stem cell model of hereditary spastic

Frontiers Cortical Damage Associated With Cognitive and Motor

Mutational spectrum of the SPG4 SPAST and SPG3A ATL1 genes in

Clinical and genetic features of a large cohort of Italian SPG4

Infantileonset ascending spastic paraplegia phenotype associated with

Frontiers Spastin MIT Domain DiseaseAssociated Mutations Disrupt

PPT Clinical Summary and Cognitive Function of SPG21 Patients

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo

Transcriptional and PostTranscriptional Regulation of SPAST the Gene

A complex form of hereditary spastic paraplegia in three siblings due

Identification and analysis of rearrangement in SPAST a The upper

Frontiers Mitochondrial Function in Hereditary Spastic Paraplegia

Identification and analysis of rearrangement in SPAST a The upper

Sequence variants in SPAST SPG3A and HSPD1 in hereditary spastic

Frontiers Cortical Damage Associated With Cognitive and Motor

A patientderived stem cell model of hereditary spastic paraplegia with

Spastin executes microtubule loss after invasion of dendrites by Tau

A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo

Schematic diagram of fulllength spastin and four other mutated forms

Frontiers Cortical Damage Associated With Cognitive and Motor

PDF Mutational spectrum of the SPG4 SPAST and SPG3A ATL1 genes in

International Journal of Molecular Medicine

What Is a Missense Mutation

Spastic Paraplegia Mutation

Spastic Paralysis

Different Mutations Examples

Hereditary Spastic Paraparesis

Milde Modarate Spastic

Gehandicapte Spast

Paraplage Spastic Muscles

Parasitic Spinal Mutation

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