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Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
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- Publication type:
- Article
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca<sup>2+</sup>-microdomains by tuning PMCA3 activity.
- Published in:
- Cell Death & Disease, 2022, v. 13, n. 10, p. 1, doi. 10.1038/s41419-022-05300-y
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- Publication type:
- Article
Ischemic Preconditioning Targets the Respiration of Synaptic Mitochondria via Protein Kinase Cε.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 16, p. 4172, doi. 10.1523/JNEUROSCI.5471-07.2008
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- Publication type:
- Article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2017
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- Publication type:
- Erratum
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2016
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- Publication type:
- Erratum
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x
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- Publication type:
- Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1
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- Publication type:
- Article
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8
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- Publication type:
- Article
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
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- Publication type:
- Article
Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1399, doi. 10.1093/hmg/ddt526
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- Publication type:
- Article
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 4, p. 5789, doi. 10.3390/ijms15045789
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- Publication type:
- Article
Work design theory: A review and critique with implications for human resource development.
- Published in:
- Human Resource Development Quarterly, 2005, v. 16, n. 1, p. 85, doi. 10.1002/hrdq.1125
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- Publication type:
- Article
Challenges and Choices for Theoretical Research in Human Resource Development.
- Published in:
- Human Resource Development Quarterly, 2004, v. 15, n. 2, p. 171, doi. 10.1002/hrdq.1097
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- Publication type:
- Article
Integrating Learning with Working: A Reconception of the Role of Workplace Learning.
- Published in:
- Human Resource Development Quarterly, 1999, v. 10, n. 3, p. 249, doi. 10.1002/hrdq.3920100305
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- Publication type:
- Article
In Action: Measuring Return on Investment (Vol. 1) (Book).
- Published in:
- 1995
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- Publication type:
- Book Review
Invited Reaction: Scanning for Performance Value.
- Published in:
- Human Resource Development Quarterly, 1993, v. 4, n. 4, p. 353, doi. 10.1002/hrdq.3920040405
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- Publication type:
- Article
Accelerated Training 1992: Buyer Beware.
- Published in:
- Human Resource Development Quarterly, 1992, v. 3, n. 2, p. 183, doi. 10.1002/hrdq.3920030209
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- Publication type:
- Article
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247
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- Publication type:
- Article
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 636, doi. 10.1038/ejhg.2009.235
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- Publication type:
- Article
Economic Inequality, Educational Inequity, and Reduced Career Opportunity: A Self‐perpetuating Cycle?
- Published in:
- New Horizons in Adult Education & Human Resource Development, 2018, v. 30, n. 1, p. 19, doi. 10.1002/nha3.20206
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- Publication type:
- Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
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- Publication type:
- Article
The Strategic Roles of Human Resource Development.
- Published in:
- Human Resource Planning, 1995, v. 18, n. 4, p. 10
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- Publication type:
- Article
The Relationship of Learning and Performance Improvement at Different System Levels.
- Published in:
- Performance Improvement Quarterly, 2000, v. 13, n. 1, p. 60, doi. 10.1111/j.1937-8327.2000.tb00157.x
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- Publication type:
- Article
Preparation for Midskilled Work and Continuous Learning in Nine Community College Occupational Programs.
- Published in:
- Community College Review, 2008, v. 35, n. 3, p. 208, doi. 10.1177/0091552107310119
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- Publication type:
- Article
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 56, doi. 10.1111/cge.14127
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- Publication type:
- Article
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 1, p. 18, doi. 10.1111/cge.12841
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- Publication type:
- Article
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 6, p. 918, doi. 10.1111/cge.12931
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- Publication type:
- Article
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 3, p. 441, doi. 10.1111/cge.12790
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- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Publication type:
- Article
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 819, doi. 10.1002/acn3.51980
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- Publication type:
- Article
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
- Published in:
- Cerebellum, 2023, v. 22, n. 6, p. 1313, doi. 10.1007/s12311-022-01497-y
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- Publication type:
- Article
High-sensitivity power Doppler imaging of normal superficial lymph nodes.
- Published in:
- 2004
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- Publication type:
- journal article
Intravascular Ultrasound Evaluation for Assessment and Therapeutic Decisions in Aortic Diseases.
- Published in:
- Angiology, 1994, v. 45, n. 1, p. 7, doi. 10.1177/000331979404500102
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- Publication type:
- Article
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
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- Publication type:
- Article
My Helpful Pandemic.
- Published in:
- Voices: The Art & Science of Psychotherapy, 2021, v. 57, n. 3, p. 81
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- Publication type:
- Article
On Being a Retired Psychotherapist.
- Published in:
- Voices: The Art & Science of Psychotherapy, 2020, v. 56, n. 1, p. 61
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- Publication type:
- Article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
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- Publication type:
- journal article
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
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- Publication type:
- 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
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
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- Publication type:
- Article
Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 5, p. 1, doi. 10.1111/pai.13782
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- Publication type:
- Article
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 1, p. 5, doi. 10.3390/life12010005
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- Publication type:
- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3650, doi. 10.1093/hmg/ddy273
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- Publication type:
- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2739, doi. 10.1093/hmg/ddy183
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- Publication type:
- Article
La transizione di ruolo dall'assistenza all'adulto all'assistenza al bambino: studio fenomenologico descrittivo.
- Published in:
- Children's Nurses: Italian Journal of Pediatric Nursing Science / Infermieri dei Bambini: Giornale Italiano di Scienze Infermieristiche Pediatriche, 2015, v. 7, n. 4, p. 136
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- Publication type:
- Article
Letter to the Editor Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.
- Published in:
- 2004
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- Publication type:
- Letter
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
- Published in:
- FEBS Letters, 2005, v. 579, n. 17, p. 3770, doi. 10.1016/j.febslet.2005.05.035
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- Publication type:
- Article
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.
- Published in:
- FEBS Journal, 2014, v. 281, n. 15, p. 3473, doi. 10.1111/febs.12874
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- Publication type:
- Article