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Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 11, p. 1620, doi. 10.1002/mdc3.13892
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- Publication type:
- Article
Two Cases of TMEM151A‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2‐Negative Patients.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 842, doi. 10.1002/mdc3.13705
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- Publication type:
- Article
Effectiveness of Preoperative Immunonutrition in Improving Surgical Outcomes after Radical Cystectomy for Bladder Cancer: Study Protocol for a Multicentre, Open-Label, Randomised Trial (INu-RC).
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- Healthcare (2227-9032), 2024, v. 12, n. 6, p. 696, doi. 10.3390/healthcare12060696
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- Publication type:
- Article
Gender and Autoimmune Liver Diseases: Relevant Aspects in Clinical Practice.
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- Journal of Personalized Medicine, 2022, v. 12, n. 6, p. 925, doi. 10.3390/jpm12060925
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- Publication type:
- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
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- Publication type:
- Article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
- Published in:
- 2021
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- Publication type:
- journal article
COVID-19 Vaccine Acceptance among Liver Transplant Recipients.
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- Vaccines, 2021, v. 9, n. 11, p. 1314, doi. 10.3390/vaccines9111314
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- Publication type:
- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
- Published in:
- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
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- Publication type:
- Article
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
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- Publication type:
- Article
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
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- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5
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- Publication type:
- Article
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.658178
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- Publication type:
- Article
Genetics, sex, and gender.
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- Journal of Neuroscience Research, 2023, v. 101, n. 5, p. 553, doi. 10.1002/jnr.24945
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- Publication type:
- Article
Perceived in-group threat as a factor moderating the influence of in-group norms on discrimination against foreigners.
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- European Journal of Social Psychology, 2004, v. 34, n. 2, p. 135, doi. 10.1002/ejsp.189
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- Publication type:
- Article
Acute kidney injury and chronic kidney disease after liver transplant: A retrospective observational study.
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- Nefrologia, 2022, v. 42, n. 1, p. 41, doi. 10.1016/j.nefroe.2021.01.003
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- Publication type:
- Article
Newspaper readership and the perception of crime: Testing an assumed relationship through a triangulation of methods.
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- Legal & Criminological Psychology, 1998, v. 3, n. 1, p. 29, doi. 10.1111/j.2044-8333.1998.tb00350.x
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- Publication type:
- Article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
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- Publication type:
- Article
A novel mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1092, doi. 10.1038/ejhg.2009.12
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- Publication type:
- Article
Prevention of hepatitis C recurrence by bridging sofosbuvir/ribavirin from pre- to post-liver transplant: a real-life strategy.
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- Liver International, 2017, v. 37, n. 5, p. 678, doi. 10.1111/liv.13322
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- Publication type:
- Article
The prognosis and management of inactive HBV carriers.
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- Liver International, 2016, v. 36, p. 100, doi. 10.1111/liv.13006
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- Publication type:
- Article
Optimal therapy of chronic hepatitis B: how do I treat my HBeAg-negative patients?
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- Liver International, 2015, v. 35, p. 107, doi. 10.1111/liv.12717
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- Publication type:
- Article
Cost analysis of a long‐term randomized controlled study in biliary duct‐to‐duct anastomotic stricture after liver transplantation.
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- Transplant International, 2021, v. 34, n. 5, p. 825, doi. 10.1111/tri.13867
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- Publication type:
- Article
Coronavirus disease 2019 and transplantation: tackling the challenges of SARS‐CoV‐2 infection in waiting list candidates.
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- Transplant International, 2020, v. 33, n. 12, p. 1830, doi. 10.1111/tri.13742
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- Publication type:
- Article
Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 G.
- Published in:
- 2012
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- Publication type:
- Case Study
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
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- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
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- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Publication type:
- Article
Adult-onset KMT2B-related dystonia.
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- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac276
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- Publication type:
- Article
Social Influence in Personally Relevant Contexts: The Respect Attributed to the Sources as a Factor Increasing Smokers' Intention to Quit Smoking.
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- Journal of Applied Social Psychology, 2003, v. 33, n. 9, p. 1818, doi. 10.1111/j.1559-1816.2003.tb02082.x
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- Publication type:
- Article
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
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- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01145-y
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- Publication type:
- Article
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
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- Publication type:
- Article
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation.
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- Movement Disorders, 2021, v. 36, n. 6, p. 1461, doi. 10.1002/mds.28547
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- Publication type:
- Article
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1463, doi. 10.1002/mds.28555
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- Publication type:
- Article
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
- Published in:
- 2019
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- Publication type:
- journal article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
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- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
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- Publication type:
- Article
A Homozygous Mutation in LYRM7/ MZM1 L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity.
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- Human Mutation, 2013, v. 34, n. 12, p. 1619, doi. 10.1002/humu.22441
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- Publication type:
- Article
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.
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- Human Mutation, 2013, v. 34, n. 11, p. 1501, doi. 10.1002/humu.22393
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- Publication type:
- Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
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- Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
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- Publication type:
- Article
Long-term add-on therapy with adefovir in lamivudine-resistant kidney graft recipients with chronic hepatitis B.
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- Nephrology Dialysis Transplantation, 2011, v. 26, n. 6, p. 2037, doi. 10.1093/ndt/gfr174
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- Publication type:
- Article
Efficacy and safety of device‐assisted enteroscopy ERCP in liver transplantation: A systematic review and meta‐analysis.
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- Clinical Transplantation, 2020, v. 34, n. 6, p. 1, doi. 10.1111/ctr.13864
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- Publication type:
- Article
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
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- Human Molecular Genetics, 2003, v. 12, n. 4, p. 399, doi. 10.1093/hmg/ddg038
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- Publication type:
- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Publication type:
- Article
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
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- Neurogenetics, 2021, v. 22, n. 1, p. 65, doi. 10.1007/s10048-021-00634-9
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- Publication type:
- Article
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
- Published in:
- Movement Disorders, 2002, v. 17, n. 2, p. 407, doi. 10.1002/mds.10045
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- Publication type:
- Article
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
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- Human Mutation, 1998, v. 11, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
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- Publication type:
- Article
A 5-month history of fever and dry cough in a 67-year-old man.
- Published in:
- 2020
- By:
- Publication type:
- journal article