Found: 27
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3144, doi. 10.1093/brain/awae064
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- Publication type:
- Article
MSA-C or SCA 17? A clinicopathological case update.
- Published in:
- 2016
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- Publication type:
- case study
An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
- Published in:
- Movement Disorders, 2011, v. 26, n. 5, p. 905, doi. 10.1002/mds.23593
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- Publication type:
- Article
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 303, doi. 10.1111/jns.12386
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- Publication type:
- Article
Severe cognitive impairment in a patient with CMT2A.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 52, doi. 10.1111/jns.12155
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- Publication type:
- Article
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 2, p. 67, doi. 10.1111/jns.12117
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- Publication type:
- Article
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 1028, doi. 10.3390/cells9041028
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- Publication type:
- Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4025, doi. 10.1093/brain/awad203
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- Publication type:
- Article
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
- Published in:
- 2021
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- Publication type:
- journal article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
- Published in:
- 2020
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- Publication type:
- journal article
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7507, doi. 10.3390/ijms22147507
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- Publication type:
- Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 844, doi. 10.1002/acn3.344
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- Publication type:
- Article
G‐quadruplex‐binding small molecules ameliorate <italic>C9orf72 </italic>FTD/ALS pathology <italic>in vitro</italic> and <italic>in vivo</italic>.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 1, p. 22, doi. 10.15252/emmm.201707850
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- Publication type:
- Article
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00429
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- Publication type:
- Article
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
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- Publication type:
- Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 11, p. 1567, doi. 10.3390/biom13111567
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- Publication type:
- Article
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
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- Publication type:
- Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 201, doi. 10.1111/j.1529-8027.2012.00400.x
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- Publication type:
- Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- 2014
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- Publication type:
- journal article
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2480, doi. 10.1093/brain/awu179
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- Publication type:
- Article
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e217, doi. 10.1093/brain/aws034
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- Publication type:
- Article
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.
- Published in:
- 2012
- By:
- Publication type:
- letter
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
- Published in:
- Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
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- Publication type:
- Article
Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 4, p. 1327, doi. 10.1111/jcmm.17136
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- Publication type:
- Article
COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
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- Publication type:
- Article
Intermediate conduction velocity in two cases of Charcot−Marie−Tooth disease type 1A.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16199
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- Publication type:
- Article