Found: 25
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ATXN- 2 CAG repeat expansions are interrupted in ALS patients.
- Published in:
- Human Genetics, 2011, v. 130, n. 4, p. 575, doi. 10.1007/s00439-011-1000-2
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- Publication type:
- Article
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 69, doi. 10.1007/s00439-004-1101-2
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- Publication type:
- Article
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 314, doi. 10.1007/s00439-002-0704-8
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- Publication type:
- Article
A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00155
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- Publication type:
- Article
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
- Published in:
- 2019
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- Publication type:
- journal article
A Recurrent Signal Peptide Mutation in the Growth Hormone Releasing Hormone Receptor with Defective Translocation to the Cell Surface and Isolated Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 10, p. 3939, doi. 10.1210/jc.2009-0833
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- Publication type:
- Article
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 2039, doi. 10.3390/genes14112039
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- Publication type:
- Article
Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1658, doi. 10.3390/genes14081658
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- Publication type:
- Article
An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1607, doi. 10.3390/genes12101607
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- Publication type:
- Article
A case of early-onset Parkinson's disease in a patient with KBG syndrome.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 12, p. 4537, doi. 10.1007/s10072-023-06988-2
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- Publication type:
- Article
Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.
- Published in:
- 2019
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- Publication type:
- journal article
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 8, p. 2220
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- Publication type:
- Article
The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00213
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- Publication type:
- Article
Multiple Polymorphisms Affect Expression and Function of the Neuropeptide S Receptor (NPSR1).
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029523
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- Publication type:
- Article
Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.
- Published in:
- Antioxidants, 2022, v. 11, n. 5, p. 815, doi. 10.3390/antiox11050815
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- Publication type:
- Article
The case of the solitary sick kidney.
- Published in:
- 2010
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- Publication type:
- Letter
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 688, doi. 10.1002/humu.20950
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- Publication type:
- Article
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
- Published in:
- 2015
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- Publication type:
- Letter
Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 1047, doi. 10.1002/mdc3.14124
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- Publication type:
- Article
Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.
- Published in:
- 2024
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- Publication type:
- Case Study
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 7, p. 812, doi. 10.1001/jamaneurol.2016.1114
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- Publication type:
- Article
Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 65, doi. 10.1007/s10048-021-00634-9
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- Publication type:
- Article
Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
- Published in:
- Scientific Reports, 2016, p. 33735, doi. 10.1038/srep33735
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- Publication type:
- Article
C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10385, doi. 10.3390/ijms221910385
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- Publication type:
- Article