scholarly article | Q13442814 |
P50 | author | Stanislav Groppa | Q96243705 |
Nicholas W. Wood | Q42592839 | ||
Viorica Chelban | Q55718189 | ||
P2093 | author name string | Henry Houlden | |
David S Lynch | |||
James M Polke | |||
Arianna Tucci | |||
Hallgeir Jonvik | |||
Liana Santos | |||
P2860 | cites work | The prevalence of depression in hereditary spastic paraplegia | Q84135806 |
Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia | Q89082611 | ||
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders | Q24558589 | ||
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders | Q28116849 | ||
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia | Q28141185 | ||
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia | Q28145715 | ||
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics | Q28216505 | ||
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. | Q33680138 | ||
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. | Q33713215 | ||
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Q34208328 | ||
Excess of rare, inherited truncating mutations in autism | Q35665894 | ||
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families | Q37015214 | ||
A genome-wide linkage and association scan reveals novel loci for autism | Q37410600 | ||
A role for white matter abnormalities in the pathophysiology of bipolar disorder | Q37629209 | ||
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance | Q38007254 | ||
Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms | Q38222390 | ||
Sequence analysis of the AAA protein family | Q41615832 | ||
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia | Q42354740 | ||
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia | Q43076587 | ||
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases | Q43146853 | ||
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts | Q44907924 | ||
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study | Q45185835 | ||
Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation | Q45236123 | ||
Epidemiology of autism spectrum disorders in adults in the community in England | Q45837341 | ||
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. | Q48452708 | ||
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. | Q48475824 | ||
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence | Q48495069 | ||
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. | Q48726091 | ||
Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. | Q52025922 | ||
Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder. | Q52037328 | ||
Familial spastic paraplegia; its relation to mental and cardiac abnormalities. | Q52166271 | ||
Hereditary spastic paraparesis and psychosis. | Q53591708 | ||
Spastin mutations in sporadic adult-onset upper motor neuron syndromes | Q57775042 | ||
Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia | Q60689215 | ||
Hypomanic behaviour associated with familial spastic paraplegia | Q68012664 | ||
Interrater reliability of a modified Ashworth scale of muscle spasticity | Q69735143 | ||
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia | Q79226149 | ||
Hereditary spastic paraplegia | Q80682200 | ||
Hereditary spastic paraplegia, bipolar affective disorder and intellectual disability: a case report | Q80862121 | ||
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques | Q83111381 | ||
P433 | issue | 8 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | comorbidity | Q1414874 |
P304 | page(s) | 681-687 | |
P577 | publication date | 2017-06-01 | |
P1433 | published in | Journal of Neurology, Neurosurgery and Psychiatry | Q1599804 |
P1476 | title | Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia | |
P478 | volume | 88 |
Q98770719 | Complicated SPG4 presenting with recurrent urinary tract infection |
Q52319938 | Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. |
Q90303504 | Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse |
Q51738014 | Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. |
Q90598359 | Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia |
Q60046943 | Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study |
Q99633714 | Spastin depletion increases tubulin polyglutamylation and impairs kinesin-mediated neuronal transport, leading to working and associative memory deficits |
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