| P50 | author | O A Shchagina | Q92063630 |
| | Elena Dadali | Q92063640 |
| | Tatiana Markova | Q96020751 |
| | Darya Guseva | Q98195456 |
| | Varvara Kadnikova | Q90598341 |
| | Galina Rudenskaya | Q90598344 |
| | Oxana Ryzhkova | Q90598353 |
| P2093 | author name string | D N Khmelkova | |
| | L A Bessonova | |
| P2860 | cites work | A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia | Q91782557 |
| | Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis | Q92308137 |
| | Genetic heterogeneity in infantile spasms | Q92501258 |
| | KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia | Q93134117 |
| | Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis | Q24607347 |
| | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability | Q29144196 |
| | 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 | Q34465792 |
| | KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | Q35161567 |
| | KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations | Q35969072 |
| | Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia | Q36116699 |
| | Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia | Q36330076 |
| | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome | Q38612568 |
| | Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders | Q39778164 |
| | Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis | Q40495854 |
| | Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement | Q41140562 |
| | De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy | Q41840638 |
| | Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. | Q41918173 |
| | Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias | Q42691767 |
| | Multigeneration family with dominant SPG30 hereditary spastic paraplegia. | Q47122455 |
| | Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation | Q47686184 |
| | Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene | Q48089031 |
| | De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance | Q48135815 |
| | Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. | Q48674981 |
| | A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. | Q49733638 |
| | KIF1A mutation in a patient with progressive neurodegeneration. | Q51033380 |
| | PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex | Q58597997 |
| | De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy | Q59545957 |
| | Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study | Q60046943 |
| | The novel mutation of gene as the cause for Spastic paraplegia 30 in a Japanese case | Q60313377 |
| | Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes | Q64254880 |
| | Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients | Q89207801 |
| | KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement | Q89872350 |
| | Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene | Q90072101 |
| | A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity | Q90345448 |
| | Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia | Q90732192 |
| | Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report | Q91651625 |
| | Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene | Q91725880 |
| P433 | issue | 1 | |
| P304 | page(s) | 290 | |
| P577 | publication date | 2020-08-03 | |
| P1433 | published in | BMC Neurology | Q15763734 |
| P1476 | title | KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families | |
| P478 | volume | 20 | |