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Specific serum and CSF microRNA profiles distinguish sporadic behavioural variant of frontotemporal dementia compared with Alzheimer patients and cognitively healthy controls.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197329
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- Publication type:
- Article
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
- Published in:
- 2017
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- Publication type:
- journal article
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.
- Published in:
- Audiology & Neurotology, 2013, v. 18, n. 3, p. 192, doi. 10.1159/000350246
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- Publication type:
- Article
Neurodegenerative Erkrankungen.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 2, p. 229, doi. 10.1007/s11825-018-0195-1
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- Publication type:
- Article
Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 2, p. 252, doi. 10.1007/s11825-018-0185-3
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- Publication type:
- Article
Neurofilament levels as biomarkers in asymptomatic and symptomatic familial amyotrophic lateral sclerosis.
- Published in:
- 2016
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- Publication type:
- journal article
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
- Published in:
- 2021
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- Publication type:
- journal article
Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 9, p. 1351, doi. 10.1007/s00417-010-1417-7
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- Publication type:
- Article
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 3, p. 591, doi. 10.1007/s00401-021-02346-8
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- Publication type:
- Article
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
- Published in:
- EMBO Molecular Medicine, 2022, v. 14, n. 8, p. 1, doi. 10.15252/emmm.202216423
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- Publication type:
- Article
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.
- Published in:
- EMBO Molecular Medicine, 2019, v. 11, n. 12, p. N.PAG, doi. 10.15252/emmm.201911115
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- Publication type:
- Article
Poly- GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/ FTD.
- Published in:
- EMBO Molecular Medicine, 2017, v. 9, n. 7, p. 859, doi. 10.15252/emmm.201607486
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- Publication type:
- Article
Predicting disease progression in behavioral variant frontotemporal dementia.
- Published in:
- Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12262
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- Publication type:
- Article
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
- Published in:
- 2019
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- Publication type:
- journal article
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 5, p. 1026, doi. 10.1007/s00415-018-8790-2
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- Publication type:
- Article
Gene panel testing of 5589 <italic>BRCA1/2</italic>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
- Published in:
- Cancer Medicine, 2018, v. 7, n. 4, p. 1349, doi. 10.1002/cam4.1376
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- Publication type:
- Article
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
- Published in:
- Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00045
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- Publication type:
- Article
<i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
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- Publication type:
- Article
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
- Published in:
- Human Genetics, 2021, v. 140, n. 8, p. 1157, doi. 10.1007/s00439-021-02285-0
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- Publication type:
- Article
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 45, doi. 10.1007/s00439-010-0896-2
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- Publication type:
- Article
Case report: acute abdominal pain in a 37-year-old patient and the consequences for his family.
- Published in:
- 2020
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- Publication type:
- journal article
Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98737-8
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- Publication type:
- Article
NEK1 mutations in familial amyotrophic lateral sclerosis.
- Published in:
- 2016
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- Publication type:
- letter
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e309, doi. 10.1093/brain/awu227
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- Publication type:
- Article
Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers.
- Published in:
- 2014
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- Publication type:
- journal article
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 12, p. 2427, doi. 10.1002/mds.29221
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- Publication type:
- Article
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1083, doi. 10.1093/hmg/ddac267
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- Publication type:
- Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 20, p. 4055, doi. 10.1093/hmg/ddx296
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- Publication type:
- Article
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63515
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- Publication type:
- Article
Relationship of serum beta‐synuclein with blood biomarkers and brain atrophy.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, n. 4, p. 1358, doi. 10.1002/alz.12790
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- Publication type:
- Article