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Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
- Published in:
- Human Genomics, 2019, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40246-019-0203-9
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- Article
Affected Twins in the Familial Intracranial Aneurysm Study.
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- Cerebrovascular Diseases, 2015, v. 39, n. 2, p. 82, doi. 10.1159/000369961
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- Article
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes.
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- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-1105-z
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- Article
Modifiers of (CAG) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.
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- Human Genetics, 2014, v. 133, n. 10, p. 1311, doi. 10.1007/s00439-014-1467-8
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- Article
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
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- Human Genetics, 2014, v. 133, n. 11, p. 1419, doi. 10.1007/s00439-014-1475-8
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- Article
Inherited Occipital Hypoplasia/Syringomyelia in the Cavalier King Charles Spaniel: Experiences in Setting Up a Worldwide DNA Collection.
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- Journal of Heredity, 2005, v. 96, n. 7, p. 745, doi. 10.1093/jhered/esi074
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- Article
Inherited Occipital Hypoplasia/Syringomyelia in the Cavalier King Charles Spaniel: Experiences in Setting Up a Worldwide DNA Collection.
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- Journal of Heredity, 2005, v. 96, n. 7, p. 745, doi. 10.1093/jhered/esi074
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- Publication type:
- Article
Stress, Cortisol and NR3C1 in At-Risk Individuals for Psychosis: A Mendelian Randomization Study.
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- Frontiers in Psychiatry, 2020, p. 1, doi. 10.3389/fpsyt.2020.00680
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- Article
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
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- Frontiers in Oncology, 2023, v. 13, p. 1, doi. 10.3389/fonc.2023.1111191
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- Article
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01219
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- Article
MEIS1 and Restless Legs Syndrome: A Comprehensive Review.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00935
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- Article
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
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- Cancers, 2022, v. 14, n. 9, p. N.PAG, doi. 10.3390/cancers14092251
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- Article
Models for Inherited Susceptibility to Cancer in the Nervous System: A Molecular-Genetic Approach to Neurofibromatosis.
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- Developmental Neuroscience, 1987, v. 9, n. 3, p. 144, doi. 10.1159/000111618
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- Article
Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.
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- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164212
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- Article
Identification of Novel Genes Involved in Migraine.
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- Headache: The Journal of Head & Face Pain, 2012, v. 52, p. 107, doi. 10.1111/j.1526-4610.2012.02237.x
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- Article
Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.
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- Annals of Neurology, 2012, v. 72, n. 4, p. 479, doi. 10.1002/ana.23678
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- Publication type:
- Article
Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis.
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- Annals of Neurology, 2011, v. 70, n. 1, p. 170, doi. 10.1002/ana.22435
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- Article
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
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- Annals of Neurology, 2009, v. 65, n. 6, p. 748, doi. 10.1002/ana.21625
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- Article
Reply.
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- Annals of Neurology, 2008, v. 64, n. 3, p. 358, doi. 10.1002/ana.21513
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- Article
Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?
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- Annals of Neurology, 2007, v. 62, n. 6, p. 553, doi. 10.1002/ana.21319
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- Publication type:
- Article
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.
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- Annals of Neurology, 2007, v. 62, n. 1, p. 93, doi. 10.1002/ana.21143
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- Article
Characterization of a novel SPG3A deletion in a French‐Canadian family.
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- Annals of Neurology, 2007, v. 61, n. 6, p. 599, doi. 10.1002/ana.21114
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- Article
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1‐10q24.1.
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- Annals of Neurology, 2004, v. 56, n. 4, p. 579, doi. 10.1002/ana.20239
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- Article
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
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- Annals of Neurology, 2004, v. 56, n. 4, p. 572, doi. 10.1002/ana.20237
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- Article
The 14q restless legs syndrome locus in the French Canadian population.
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- Annals of Neurology, 2004, v. 55, n. 6, p. 887
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- Article
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.
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- Annals of Neurology, 2004, v. 55, n. 5, p. 757
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- Article
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
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- Annals of Neurology, 2003, v. 54, n. 1, p. 9
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- Article
An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.
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- Annals of Neurology, 2003, v. 53, n. 1, p. 144
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- Publication type:
- Article
Reply.
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- Annals of Neurology, 2001, v. 50, n. 4, p. 554, doi. 10.1002/ana.1152
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- Article
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.
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- 2001
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- Publication type:
- journal article
PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.
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- Annals of Neurology, 2000, v. 48, n. 5, p. 798, doi. 10.1002/1531-8249(200011)48:5<798::AID-ANA16>3.0.CO;2-U
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- Article
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.
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- Annals of Neurology, 2000, v. 47, n. 4, p. 517, doi. 10.1002/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B
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- Article
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.
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- Annals of Neurology, 1999, v. 46, n. 1, p. 115, doi. 10.1002/1531-8249(199907)46:1<115::AID-ANA17>3.0.CO;2-O
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- Article
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and machado-joseph disease.
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- Annals of Neurology, 1996, v. 40, n. 2, p. 199, doi. 10.1002/ana.410400211
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- Article
SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries.
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- Annals of Neurology, 1996, v. 39, n. 1, p. 128, doi. 10.1002/ana.410390119
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- Article
Toward Precision Medicine: TBC1D4 Disruption Is Common Among the Inuit and Leads to Underdiagnosis of Type 2 Diabetes.
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- 2016
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- Publication type:
- journal article
Epistasis analysis links immune cascades and cerebral amyloidosis.
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- 2015
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- Publication type:
- journal article
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
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- Movement Disorders, 2024, v. 39, n. 2, p. 400, doi. 10.1002/mds.29669
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- Article
Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease.
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- Movement Disorders, 2021, v. 36, n. 8, p. 1967, doi. 10.1002/mds.28640
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- Article
Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7.
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- Movement Disorders, 2021, v. 36, n. 7, p. 1664, doi. 10.1002/mds.28528
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- Article
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
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- Movement Disorders, 2021, v. 36, n. 2, p. 514, doi. 10.1002/mds.28341
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- Publication type:
- Article
Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease.
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- Movement Disorders, 2021, v. 36, n. 1, p. 178, doi. 10.1002/mds.28299
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- Publication type:
- Article
Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
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- 2020
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- Publication type:
- journal article
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
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- 2017
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- Publication type:
- journal article
SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.
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- 2016
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- Publication type:
- case study
The case for locus-specific databases.
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- 2011
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- Publication type:
- journal article
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
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- 2009
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- Publication type:
- journal article
Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
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- International Journal of Neuropsychopharmacology, 2005, v. 8, n. 4, p. 495, doi. 10.1017/s1461145705005821
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- Publication type:
- Article
A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.
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- JAMA Neurology, 2015, v. 72, n. 8, p. 942, doi. 10.1001/jamaneurol.2015.0888
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- Article
Expanding the Clinical Phenotype Associated With ELOVL4 Mutation.
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- JAMA Neurology, 2014, v. 71, n. 4, p. 470, doi. 10.1001/jamaneurol.2013.6337
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- Publication type:
- Article