| P50 | author | Coro Paisán-Ruíz | Q64855861 |
| P2093 | author name string | Catharine E Krebs | |
| P2860 | cites work | Exome sequencing of a pedigree with Tourette syndrome or chronic tic disorder | Q83968945 |
| | Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) | Q95441508 |
| | Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases | Q21144939 |
| | Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease | Q21710709 |
| | Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations | Q24296941 |
| | Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia | Q24297970 |
| | Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease | Q24309083 |
| | Biology and action of colony--stimulating factor-1 | Q24310399 |
| | FMS mutations in myelodysplastic, leukemic, and normal subjects | Q24559066 |
| | Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis | Q24605905 |
| | Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis | Q24607347 |
| | Exome sequencing identifies the cause of a mendelian disorder | Q24607742 |
| | Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 |
| | Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature | Q24615911 |
| | Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation | Q24618174 |
| | Exome sequencing reveals VCP mutations as a cause of familial ALS | Q24631513 |
| | A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease | Q24633417 |
| | Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS | Q24633692 |
| | A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD | Q24634583 |
| | Exome sequencing reveals SPG11 mutations causing juvenile ALS | Q82876507 |
| | Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression | Q83158387 |
| | Genome-wide association study reveals genetic risk underlying Parkinson's disease | Q24646654 |
| | Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 | Q24678116 |
| | Anti transglutaminase antibodies cause ataxia in mice | Q27332559 |
| | Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease | Q28292932 |
| | Exome sequencing: a transformative technology | Q28731354 |
| | Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease | Q28943440 |
| | Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability | Q29144196 |
| | Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy | Q29417026 |
| | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations | Q29614573 |
| | Parkinson's disease | Q29616302 |
| | Parkinson's disease. First of two parts | Q29620416 |
| | The unsolved puzzle of neuropathogenesis in glutaric aciduria type I. | Q33352180 |
| | High-throughput screening and small animal models, where are we? | Q33566144 |
| | SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis | Q33656243 |
| | Tourette syndrome is associated with recurrent exonic copy number variants | Q33878013 |
| | Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). | Q34095056 |
| | Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. | Q34102568 |
| | Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome | Q34113338 |
| | Genetic variability at the PARK16 locus | Q34129582 |
| | Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. | Q34146383 |
| | TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing | Q34151711 |
| | Paroxysmal dyskinesias | Q34188473 |
| | Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias | Q34236213 |
| | Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration | Q34238817 |
| | Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation | Q34359445 |
| | Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation | Q34501768 |
| | Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia | Q34722797 |
| | Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene | Q34730628 |
| | Autoantibodies in gluten ataxia recognize a novel neuronal transglutaminase | Q34840874 |
| | Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. | Q34892022 |
| | Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia | Q34899500 |
| | Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects | Q34937804 |
| | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis | Q35001476 |
| | VPS35 mutations in Parkinson disease | Q35103751 |
| | Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability | Q35148890 |
| | KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. | Q35161567 |
| | Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study | Q35671414 |
| | PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome | Q35671504 |
| | Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids | Q35705431 |
| | Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies | Q35810334 |
| | Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study | Q35859698 |
| | Principles for the post-GWAS functional characterization of cancer risk loci | Q35887461 |
| | KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations | Q35969072 |
| | Tic disorders: from pathophysiology to treatment | Q36332445 |
| | Screening for VPS35 mutations in Parkinson's disease | Q36775809 |
| | Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy | Q37253420 |
| | SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia | Q37313477 |
| | Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms | Q37325080 |
| | The genetics of Parkinson's syndromes: a critical review | Q37472412 |
| | Cerebral palsy: classification and epidemiology | Q37566910 |
| | Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations | Q37776461 |
| | Milestones in dystonia | Q37882600 |
| | Approach to ataxic diseases | Q37914389 |
| | Overview of autosomal recessive ataxias | Q37914403 |
| | Overview of autosomal dominant ataxias | Q37914413 |
| | Proteostasis and movement disorders: Parkinson's disease and amyotrophic lateral sclerosis | Q37918059 |
| | Cerebral palsy: clinical care and neurological rehabilitation | Q37919191 |
| | Clinical genetics of amyotrophic lateral sclerosis: what do we really know? | Q37944428 |
| | The complete automation of cell culture: improvements for high-throughput and high-content screening | Q39503470 |
| | MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression | Q39993879 |
| | Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. | Q41960153 |
| | Exome sequencing of two patients in a family with atypical X-linked leukodystrophy | Q45249130 |
| | Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum | Q48081283 |
| | Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice | Q48533328 |
| | Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred | Q48624902 |
| | Motor neuron disease and dementia reported among 13 members of a single family | Q48631353 |
| | SPG11 spastic paraplegia. A new cause of juvenile parkinsonism | Q48739111 |
| | Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia | Q48903075 |
| | Familial Parkinson's disease: clinical and genetic analysis of four Basque families | Q49018258 |
| | Genetics of dystonia | Q50260950 |
| | Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism | Q50346422 |
| | Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). | Q51899563 |
| | Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. | Q51994214 |
| | Amyotrophic lateral sclerosis in an urban setting | Q57499018 |
| | Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease | Q58485742 |
| | Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct | Q61738645 |
| | The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease | Q63356653 |
| P921 | main subject | movement disorders | Q2608695 |
| P304 | page(s) | 75 | |
| P577 | publication date | 2012-05-14 | |
| P1433 | published in | Frontiers in Genetics | Q2499875 |
| P1476 | title | The use of next-generation sequencing in movement disorders | |
| P478 | volume | 3 | |