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Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246
- By:
- Publication type:
- Article
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 2, doi. 10.1023/A:1005397227996
- By:
- Publication type:
- Article
Dispersal gradient of M. fructicola conidia from peach orchard to an open field.
- Published in:
- European Journal of Plant Pathology, 2022, v. 162, n. 1, p. 231, doi. 10.1007/s10658-021-02374-w
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- Publication type:
- Article
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Reparametrization of COM–Poisson regression models with applications in the analysis of experimental data.
- Published in:
- Statistical Modelling: An International Journal, 2020, v. 20, n. 5, p. 443, doi. 10.1177/1471082X19838651
- By:
- Publication type:
- Article
Mitochondrial disorders.
- Published in:
- Molecular Human Reproduction, 1997, v. 3, n. 2, p. 133, doi. 10.1093/molehr/3.2.133
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- Publication type:
- Article
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
- Published in:
- European Journal of Neurology, 2011, v. 18, n. 2, p. 207, doi. 10.1111/j.1468-1331.2010.03069.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 5, p. 641, doi. 10.1111/j.1468-1331.2010.02985.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 2, p. 179, doi. 10.1111/j.1468-1331.2009.02873.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 12, p. 1255, doi. 10.1111/j.1468-1331.2009.02811.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 7, p. 777, doi. 10.1111/j.1468-1331.2009.02646.x
- By:
- Publication type:
- Article
EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases Second of two parts.
- Published in:
- European Journal of Neurology, 2001, v. 8, n. 5, p. 407, doi. 10.1046/j.1468-1331.2001.00228.x
- By:
- Publication type:
- Article
Giant cells glioblastoma: case report and pathological analysis from this uncommon subtype of glioma.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Demonstration and characterization of anti-human mitochondria autoantibodies in idiopathic hypoparathyroidism and in other conditions.
- Published in:
- Clinical & Experimental Immunology, 1985, v. 62, n. 2, p. 353
- By:
- Publication type:
- Article
Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
- Published in:
- Acta Neurologica Scandinavica, 1993, v. 87, n. 3, p. 219, doi. 10.1111/j.1600-0404.1993.tb04105.x
- By:
- Publication type:
- Article
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Idebenone Treatment In Leber's Hereditary Optic Neuropathy.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Scientific commentary. Train, train, train! No pain, just gain.
- Published in:
- 2008
- By:
- Publication type:
- Journal Article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Mitochondrial disorders.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 12, p. 2783, doi. 10.1093/brain/awh344
- By:
- Publication type:
- Article
Strategies for fighting mitochondrial diseases.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.
- Published in:
- Journal of Internal Medicine, 2009, v. 265, n. 2, p. 174, doi. 10.1111/j.1365-2796.2008.02059.x
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- Publication type:
- Article
Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy.
- Published in:
- Acta Neuropathologica, 1996, v. 92, n. 2, p. 115, doi. 10.1007/s004010050498
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- Publication type:
- Article
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level.
- Published in:
- Acta Neuropathologica, 1994, v. 87, n. 4, p. 371, doi. 10.1007/BF00313606
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- Publication type:
- Article
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Clinical and molecular features of mitochondrial DNA depletion syndromes.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 143, doi. 10.1007/s10545-008-1038-z
- By:
- Publication type:
- Article
Dominance in mitochondrial disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 287, doi. 10.1007/s10545-005-0307-3
- By:
- Publication type:
- Article
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 4, p. 455, doi. 10.1023/B:BOLI.0000037349.08483.96
- By:
- Publication type:
- Article
Local and systemic control of powdery mildew in eucalyptus using essential oils and decoctions from traditional Brazilian medicinal plants.
- Published in:
- Forest Pathology, 2014, v. 44, n. 2, p. 145, doi. 10.1111/efp.12079
- By:
- Publication type:
- Article
R Day report.
- Published in:
- R Journal, 2018, v. 10, n. 1, p. 551
- By:
- Publication type:
- Article
AMBIENTE TÉRMICO Y BIENESTAR DE LOS CERDOS EN EL PERÍODO DE DESCANSO PREVIO AL SACRIFICIO.
- Published in:
- Archivos de Zootecnia, 2014, v. 63, n. 242, p. 239, doi. 10.4321/s0004-05922014000200002
- By:
- Publication type:
- Article
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
- Published in:
- 1999
- By:
- Publication type:
- journal article
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
- Published in:
- Annals of Neurology, 1990, v. 28, n. 1, p. 94, doi. 10.1002/ana.410280118
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- Publication type:
- Article
Disponibilidade hídrica e distinção de ambientes para cultivo de cafeeiros.
- Published in:
- Revista Brasileira de Engenharia Agricola e Ambiental - Agriambi, 2013, v. 17, n. 4, p. 362, doi. 10.1590/S1415-43662013000400002
- By:
- Publication type:
- Article
Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell Cybrids.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 1, p. 123, doi. 10.1093/hmg/5.1.123
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- Publication type:
- Article
Carnitine in muscle, serum, and urine of nonprofessional athletes: Effects of physical exercise, training, and L-carnitine administration.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 7, p. 598, doi. 10.1002/mus.880140703
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- Publication type:
- Article
Effects of thyroid hormones on the biochemical specialization of human muscle fibers.
- Published in:
- 1985
- By:
- Publication type:
- journal article