Pages that link to "Q42843883"

The following pages link to Christos Proukakis (Q42843883):

Displaying 43 items.

• Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome (Q24311705) (← links)
• Human spastin has multiple microtubule-related functions (Q24338115) (← links)
• Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia (Q24532220) (← links)
• Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia (Q28216957) (← links)
• α-Synuclein mutations cluster around a putative protein loop (Q30430404) (← links)
• Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data (Q30626337) (← links)
• α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection (Q33615657) (← links)
• DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. (Q33880686) (← links)
• Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. (Q33890706) (← links)
• Visual short-term memory deficits associated with GBA mutation and Parkinson's disease (Q33937498) (← links)
• Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy (Q34079297) (← links)
• Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). (Q34095056) (← links)
• SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (Q34140542) (← links)
• The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia (Q34188429) (← links)
• Hyposmia and cognitive impairment in Gaucher disease patients and carriers (Q34300690) (← links)
• Defective mitochondrial mRNA maturation is associated with spastic ataxia (Q34300940) (← links)
• Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations. (Q34310903) (← links)
• Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (Q34361627) (← links)
• Is the transportation highway the right road for hereditary spastic paraplegia? (Q34923057) (← links)
• The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein. (Q35002998) (← links)
• Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. (Q35079812) (← links)
• 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. (Q35464841) (← links)
• A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations (Q35836984) (← links)
• Spastin and microtubules: Functions in health and disease. (Q36755509) (← links)
• Genetic and phenotypic characterization of complex hereditary spastic paraplegia (Q37081945) (← links)
• Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms (Q37325080) (← links)
• Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. (Q37383444) (← links)
• Exit, pursued by a bear (Q46473830) (← links)
• Somatic mutations in neurodegeneration (Q47840333) (← links)
• Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. (Q52087505) (← links)
• Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26 (Q56386843) (← links)
• No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders (Q58282814) (← links)
• Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION (Q64264969) (← links)
• Copy number variation of in familial dystonic tremor (Q64266138) (← links)
• The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder. (Q64912693) (← links)
• A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia (Q80573174) (← links)
• Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece (Q87160221) (← links)
• Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains (Q89149001) (← links)
• Selective vulnerability in α-synucleinopathies (Q90043966) (← links)
• Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing (Q92213047) (← links)
• Evolution and clustering of prodromal parkinsonian features in GBA1 carriers (Q93101636) (← links)
• A crowdsourced set of curated structural variants for the human genome (Q96590061) (← links)
• Complex mosaic structural variations in human fetal brains (Q101120379) (← links)