Found: 15
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PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
- Published in:
- Neurogenetics, 2023, v. 24, n. 3, p. 209, doi. 10.1007/s10048-023-00723-x
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- Publication type:
- Article
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.
- Published in:
- Neurogenetics, 2022, v. 23, n. 1, p. 59, doi. 10.1007/s10048-021-00671-4
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- Publication type:
- Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
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- Publication type:
- Article
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
- Published in:
- 2019
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- Publication type:
- letter
Hot-spot KIF5A mutations cause familial ALS.
- Published in:
- 2018
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- Publication type:
- journal article
Combinatorial Control of Light Induced Chromatin Remodeling and Gene Activation in Neurospora.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005105
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- Publication type:
- Article
A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01038-6
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- Publication type:
- Article
Mutations of PTPN23 in developmental and epileptic encephalopathy.
- Published in:
- Human Genetics, 2017, v. 136, n. 11/12, p. 1455, doi. 10.1007/s00439-017-1850-3
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- Publication type:
- Article
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
- Published in:
- Human Genetics, 2014, v. 133, n. 7, p. 939, doi. 10.1007/s00439-014-1436-2
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- Publication type:
- Article
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 209, doi. 10.1007/s00439-011-1062-1
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- Publication type:
- Article
ALS‐linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain‐of‐function.
- Published in:
- EMBO Reports, 2022, v. 23, n. 8, p. 1, doi. 10.15252/embr.202154234
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- Publication type:
- Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
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- Publication type:
- Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
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- Publication type:
- Article
Targeted Ablation of Primary Cilia in Differentiated Dopaminergic Neurons Reduces Striatal Dopamine and Responsiveness to Metabolic Stress.
- Published in:
- Antioxidants, 2021, v. 10, n. 8, p. 1284, doi. 10.3390/antiox10081284
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- Publication type:
- Article
Quadruple genetic variants in a sporadic ALS patient.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1953
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- Publication type:
- Article