A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics

Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington’s Disease

(2020) Hong-Rong Cheng et al.   Neuroscience Bulletin

Cortical Damage Associated With Cognitive and Motor Impairment in Hereditary Spastic Paraplegia: Evidence of a Novel SPAST Mutation

(2020) Jian-zhong Lin et al.   Frontiers in Neurology

Spastin Contributes to Neural Development through the Regulation of Microtubule Dynamics in the Primary Cilia of Neural Stem Cells

(2019) Bohyeon Jeong et al.   NEUROSCIENCE

Gedunin Degrades Aggregates of Mutant Huntingtin Protein and Intranuclear Inclusions via the Proteasomal Pathway in Neurons and Fibroblasts from Patients with Huntington’s Disease

(2019) Weiqi Yang et al.   Neuroscience Bulletin

Hereditary ataxias and paraparesias

(2018) Livia Parodi et al.   CURRENT OPINION IN NEUROLOGY

Spastin Interacts with CRMP5 to Promote Neurite Outgrowth by Controlling Microtubule Dynamics

(2018) Zhisheng Ji et al.   Developmental Neurobiology

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

(2018) Livia Parodi et al.   BRAIN

Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse

(2018) Liang Qiang et al.   HUMAN MOLECULAR GENETICS

Microtubule dynamics and the neurodegenerative triad of Alzheimer's disease: The hidden connection

(2017) Roland Brandt et al.   JOURNAL OF NEUROCHEMISTRY

Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

(2017) Viorica Chelban et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin

(2017) Joanna M. Solowska et al.   MOLECULAR BIOLOGY OF THE CELL

Translation and validation into Brazilian Portuguese of the Spastic Paraplegia Rating Scale (SPRS)

(2016) Katiane R. Servelhere et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse Elimination

(2016) Monika S. Brill et al.   NEURON

Hereditary spastic paraplegia SPG4: what is known and not known about the disease

(2015) Joanna M. Solowska et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

(2015) Tobias Lindig et al.   JOURNAL OF NEUROLOGY

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Pathogenic Mutation of Spastin Has Gain-of-Function Effects on Microtubule Dynamics

(2014) J. M. Solowska et al.   JOURNAL OF NEUROSCIENCE

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

(2012) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

(2010) J. M. Solowska et al.   HUMAN MOLECULAR GENETICS

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

(2009) Paul R. Kasher et al.   JOURNAL OF NEUROCHEMISTRY

Microtubule assembly, organization and dynamics in axons and dendrites

(2009) Cecilia Conde et al.   NATURE REVIEWS NEUROSCIENCE

Identification and functional characterization of a novel splicing mutation in RP gene PRPF31

(2008) Jing Yu Liu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

(2008) Moneef Shoukier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Quantitative and Functional Analyses of Spastin in the Nervous System: Implications for Hereditary Spastic Paraplegia

(2008) J. M. Solowska et al.   JOURNAL OF NEUROSCIENCE

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY