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Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207
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- Publication type:
- Article
Mitochondrial dysfunction in mut methylmalonic acidemia.
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- FASEB Journal, 2009, v. 23, n. 4, p. 1252, doi. 10.1096/fj.08-121848
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- Publication type:
- Article
A functionally dominant mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
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- Article
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
- Published in:
- 1998
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- Publication type:
- journal article
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
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- 1996
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- Publication type:
- journal article
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S50, doi. 10.1002/mus.880181412
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- Publication type:
- Article
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S45, doi. 10.1002/mus.880181411
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- Publication type:
- Article
Biochemistry and molecular genetics of human glycogenoses: An overview.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S10, doi. 10.1002/mus.880181405
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- Publication type:
- Article
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S23, doi. 10.1002/mus.880181407
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- Publication type:
- Article
Targeting of lysosomal enzymes: N-Acetylglucosamine-1-Phosphotransferase during muscle development.
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- Muscle & Nerve, 1986, v. 9, n. 3, p. 261, doi. 10.1002/mus.880090311
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- Publication type:
- Article
Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme.
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- Muscle & Nerve, 1984, v. 7, n. 7, p. 542, doi. 10.1002/mus.880070705
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- Publication type:
- Article
McArdle's disease: Biochemical and molecular genetic studies.
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- Annals of Neurology, 1988, v. 24, n. 6, p. 774, doi. 10.1002/ana.410240612
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- Publication type:
- Article
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 12, p. 1165, doi. 10.1002/(SICI)1097-0223(199912)19:12<1165::AID-PD719>3.0.CO;2-D
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- Publication type:
- Article
Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura.
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- Headache: The Journal of Head & Face Pain, 2004, v. 44, n. 7, p. 674, doi. 10.1111/j.1526-4610.2004.04126.x
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- Publication type:
- Article
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
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- Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
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- Publication type:
- Article
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
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- Nature, 2000, v. 406, n. 6798, p. 906, doi. 10.1038/35022604
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- Publication type:
- Article
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
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- 2008
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- Publication type:
- journal article
Mitochondrial Encephalomyopathies: Defects of Nuclear DNA.
- Published in:
- Brain Pathology, 1992, v. 2, n. 2, p. 159, doi. 10.1111/j.1750-3639.1992.tb00684.x
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- Publication type:
- Article
Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.
- Published in:
- Human Mutation, 1996, v. 7, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1
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- Publication type:
- Article
Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease).
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- Human Mutation, 1995, v. 6, n. 3, p. 276, doi. 10.1002/humu.1380060318
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- Publication type:
- Article
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
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- Human Mutation, 1994, v. 4, n. 1, p. 73, doi. 10.1002/humu.1380040113
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- Publication type:
- Article
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221
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- Publication type:
- Article
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
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- Annals of Neurology, 2003, v. 54, n. 4, p. 524
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- Publication type:
- Article
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.
- Published in:
- Annals of Neurology, 2000, v. 48, n. 5, p. 730, doi. 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0
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- Publication type:
- Article
Mitochondrial DNA and RNA processing in MELAS.
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- Annals of Neurology, 1996, v. 40, n. 2, p. 172, doi. 10.1002/ana.410400208
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- Publication type:
- Article
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
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- Annals of Neurology, 1995, v. 38, n. 3, p. 468, doi. 10.1002/ana.410380321
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- Publication type:
- Article
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
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- Annals of Neurology, 1994, v. 36, n. 4, p. 661, doi. 10.1002/ana.410360418
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- Publication type:
- Article
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
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- Annals of Neurology, 1994, v. 35, n. 3, p. 349, doi. 10.1002/ana.410350316
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- Publication type:
- Article
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
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- Annals of Neurology, 1993, v. 34, n. 6, p. 827, doi. 10.1002/ana.410340612
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- Publication type:
- Article
Glycogen branching enzyme deficiency in adult polyglucosan body disease.
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- Annals of Neurology, 1993, v. 33, n. 1, p. 88, doi. 10.1002/ana.410330114
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- Publication type:
- Article
Deletion of mitochondrial DNA in patients with combined features of kearns-sayre and MELAS syndromes.
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- Annals of Neurology, 1991, v. 29, n. 6, p. 680, doi. 10.1002/ana.410290619
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- Publication type:
- Article
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005
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- Publication type:
- Article
Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 2, p. 264, doi. 10.1177/0883073812441067
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- Publication type:
- Article
Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNA<sup>Glu</sup> of Mitochondrial DNA.
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- Journal of Child Neurology, 2007, v. 22, n. 7, p. 858, doi. 10.1177/0883073807304199
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- Publication type:
- Article
Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations.
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- Journal of Child Neurology, 2005, v. 20, n. 8, p. 670, doi. 10.1177/08830738050200080701
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- Publication type:
- Article
Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA.
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- Journal of Child Neurology, 2005, v. 20, n. 2, p. 142, doi. 10.1177/08830738050200022301
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- Publication type:
- Article
Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy.
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- Journal of Child Neurology, 2004, v. 19, n. 4, p. 258, doi. 10.1177/088307380401900403
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- Publication type:
- Article
G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidLys Gene: Another Cause of...
- Published in:
- Journal of Child Neurology, 2000, v. 15, n. 11, p. 759
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- Publication type:
- Article
A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid[sup Asp] Gene in a Child With...
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 9, p. 610
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- Publication type:
- Article