Found: 29
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MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria.
- Published in:
- Pediatrics International, 1987, v. 29, n. 5, p. 761, doi. 10.1111/j.1442-200X.1987.tb00375.x
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- Publication type:
- Article
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22389-5
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- Publication type:
- Article
Children's ability to copy triangular figures is affected by their sleep–wakefulness rhythms.
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- Sleep & Biological Rhythms, 2005, v. 3, n. 2, p. 86, doi. 10.1111/j.1479-8425.2005.00166.x
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- Publication type:
- Article
Ultrastructure of spinal anterior horn cells in human Niemann‐Pick type C (NPC) patient and mouse model of NPC with retroposon insertion in NPC1 genes.
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- Pathology International, 2020, v. 70, n. 7, p. 422, doi. 10.1111/pin.12934
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- Publication type:
- Article
Detection of a new pyrethroid resistance mutation (V410L) in the sodium channel of Aedes aegypti: a potential challenge for mosquito control.
- Published in:
- Scientific Reports, 2017, p. 46549, doi. 10.1038/srep46549
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- Publication type:
- Article
Differential Effects of TipE and a TipE-Homologous Protein on Modulation of Gating Properties of Sodium Channels from <i>Drosophila melanogaster</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067551
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- Publication type:
- Article
Identification of multiple odorant receptors essential for pyrethrum repellency in Drosophila melanogaster.
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- PLoS Genetics, 2021, v. 17, n. 7, p. 1, doi. 10.1371/journal.pgen.1009677
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- Publication type:
- Article
The Pathophysiology of Gilles de la Tourette Syndrome: Changes in Saccade Performance by Low-Dose L-Dopa and Dopamine Receptor Blockers.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1634, doi. 10.3390/brainsci13121634
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- Publication type:
- Article
Sodium Channel Mutations and Pyrethroid Resistance in Aedes aegypti.
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- Insects (2075-4450), 2016, v. 7, n. 4, p. 60, doi. 10.3390/insects7040060
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- Publication type:
- Article
Genetic diversity and expression of carbon monoxide dehydrogenase from Aeropyrum pernix.
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- Fisheries Science, 2011, v. 77, n. 1, p. 135, doi. 10.1007/s12562-010-0296-5
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- Publication type:
- Article
Purification and characterization of carbon monoxide dehydrogenase from the aerobic hyperthermophilic archaeon Aeropyrum pernix.
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- Fisheries Science, 2010, v. 76, n. 6, p. 999, doi. 10.1007/s12562-010-0277-8
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- Publication type:
- Article
Molecular evidence of sequential evolution of DDT- and pyrethroid-resistant sodium channel in Aedes aegypti.
- Published in:
- PLoS Neglected Tropical Diseases, 2019, v. 13, n. 6, p. 1, doi. 10.1371/journal.pntd.0007432
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- Publication type:
- Article
Okadaic acid induces DNA fragmentation via caspase-3-dependent and caspase-3-independent pathways in Chinese hamster ovary (CHO)-K1 cells.
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- FEBS Journal, 2010, v. 277, n. 2, p. 404, doi. 10.1111/j.1742-4658.2009.07493.x
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- Publication type:
- Article
The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy.
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- Acta Neuropathologica, 2000, v. 99, n. 2, p. 209, doi. 10.1007/PL00007426
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- Publication type:
- Article
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
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- Annals of Neurology, 2003, v. 54, n. s6, p. S32
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- Publication type:
- Article
Video analysis of gross body movements during sleep.
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- Psychiatry & Clinical Neurosciences, 1998, v. 52, n. 2, p. 176, doi. 10.1111/j.1440-1819.1998.tb01015.x
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- Publication type:
- Article
Roles of a Subependymal Nodule of Tuberous Sclerosis on Pathophysiology of Epilepsy.
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- Psychiatry & Clinical Neurosciences, 1991, v. 45, n. 2, p. 372, doi. 10.1111/j.1440-1819.1991.tb02493.x
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- Publication type:
- Article
Three Cases with Secondary Generalized Epilepsy Caused by Frontal Organic Lesion.
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- Psychiatry & Clinical Neurosciences, 1989, v. 43, n. 3, p. 485, doi. 10.1111/j.1440-1819.1989.tb02950.x
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- Publication type:
- Article
Trial of a Minimum Dosis of L-Dopa (0.5 mg/kg/day) on Intractable Epilepsy Associated with Tuberous Sclerosis.
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- Psychiatry & Clinical Neurosciences, 1988, v. 42, n. 3, p. 584, doi. 10.1111/j.1440-1819.1988.tb01367.x
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- Publication type:
- Article
Chronology of sodium channel mutations associated with pyrethroid resistance in Aedes aegypti.
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- Archives of Insect Biochemistry & Physiology, 2020, v. 104, n. 2, p. 1, doi. 10.1002/arch.21686
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- Publication type:
- Article
Aims of the Childhood Myasthenia Gravis Study Group in Japan.
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- Clinical & Experimental Neuroimmunology, 2020, v. 11, n. 3, p. 185, doi. 10.1111/cen3.12585
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- Publication type:
- Article
In memoriam: Masaya Segawa, MD, PhD (1936-2014).
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- Clinical & Experimental Neuroimmunology, 2015, v. 6, n. 3, p. 209, doi. 10.1111/cen3.12233
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- Publication type:
- Article
Two-step nationwide epidemiological survey of myasthenia gravis in Japan 2018.
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- PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0274161
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- Publication type:
- Article
Natural History of Rett Syndrome.
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- Journal of Child Neurology, 2005, v. 20, n. 9, p. 764, doi. 10.1177/08830738050200091201
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- Publication type:
- Article
Abnormal myocardial scintigraphy in a GTP cyclohydrolase 1 mutation carrier with Parkinson's disease.
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- 2016
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- Publication type:
- Case Study
Masaya Segawa, MD, PhD, 1936-2014.
- Published in:
- 2015
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- Publication type:
- journal article
Masaya Segawa, MD, Ph D, 1936-2014.
- Published in:
- Movement Disorders, 2015, v. 30, n. 7, p. 883, doi. 10.1002/mds.26257
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- Publication type:
- Article
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
- Published in:
- Nature, 1998, v. 394, n. 6691, p. 388, doi. 10.1038/28653
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- Publication type:
- Article
Systemic Lupus Erythematosus with Chorea Report of Two Cases.
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- Pediatrics International, 1974, v. 16, n. 2, p. 22, doi. 10.1111/j.1442-200X.1974.tb00059.x
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- Publication type:
- Article