Found: 25
Select item for more details and to access through your institution.
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
- Published in:
- Movement Disorders, 2015, v. 30, n. 2, p. 262, doi. 10.1002/mds.26059
- By:
- Publication type:
- Article
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).
- Published in:
- 2011
- By:
- Publication type:
- case study
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).
- Published in:
- Movement Disorders, 2011, v. 26, n. 11, p. 2134, doi. 10.1002/mds.23776
- By:
- Publication type:
- Article
Smoking-responsive juvenile-onset Parkinsonism.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.
- Published in:
- Movement Disorders, 2004, v. 19, n. 2, p. 228, doi. 10.1002/mds.10626
- By:
- Publication type:
- Article
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation.
- Published in:
- Neurodegenerative Diseases, 2007, v. 4, n. 5, p. 386, doi. 10.1159/000105160
- By:
- Publication type:
- Article
Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
- Published in:
- Nature Genetics, 2007, v. 39, n. 12, p. 1434, doi. 10.1038/ng.2007.43
- By:
- Publication type:
- Article
Ventral Horn Neuropeptides Modulate the Release of Noradrenaline from Tissue Slices of Rat Brainstem and Ventral Thoracic Spinal Cord.
- Published in:
- Journal of Neurochemistry, 1991, v. 57, n. 3, p. 845, doi. 10.1111/j.1471-4159.1991.tb08228.x
- By:
- Publication type:
- Article
Clinical and genetic analysis of spinocerebellar ataxia type 11.
- Published in:
- Cerebellum, 2008, v. 7, n. 2, p. 159, doi. 10.1007/s12311-008-0022-3
- By:
- Publication type:
- Article
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
- By:
- Publication type:
- Article
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 10, p. 1236, doi. 10.1001/jamaneurol.2021.2598
- By:
- Publication type:
- Article
Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e311, doi. 10.1093/brain/awu265
- By:
- Publication type:
- Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2875, doi. 10.1093/brain/aws161
- By:
- Publication type:
- Article
TRH-Catecholamine Interactions in Brain and Spinal Corda.
- Published in:
- Annals of the New York Academy of Sciences, 1989, v. 553, n. 1, p. 106, doi. 10.1111/j.1749-6632.1989.tb54480.x
- By:
- Publication type:
- Article
Hereditary Spastic Paraplegia Type 43 ( SPG43) is Caused by Mutation in C19orf12.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1357, doi. 10.1002/humu.22378
- By:
- Publication type:
- Article
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 5, p. 664, doi. 10.1038/nn.3688
- By:
- Publication type:
- Article
Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- case study
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 453
- By:
- Publication type:
- Article
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 2, p. 271
- By:
- Publication type:
- Article
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 5, p. 561, doi. 10.1001/jamaneurol.2014.4769
- By:
- Publication type:
- Article
A Genome-Wide Association Study of Myasthenia Gravis.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 4, p. 396, doi. 10.1001/jamaneurol.2014.4103
- By:
- Publication type:
- Article