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Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
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- Publication type:
- Article
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 10, p. 841, doi. 10.1177/08830738211006507
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- Publication type:
- Article
Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
- Published in:
- 2016
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- Publication type:
- Case Study
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
- Published in:
- 2022
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- Publication type:
- Editorial
The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
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- Publication type:
- Letter
Titaniferous magnetite and barite from the San Gregorio de Polanco dike swarm, Paraná Magmatic Province, Uruguay.
- Published in:
- Earth Sciences Research Journal, 2013, v. 17, n. 2, p. 151
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- Publication type:
- Article
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.
- Published in:
- EMBO Journal, 2004, v. 23, n. 17, p. 3559, doi. 10.1038/sj.emboj.7600351
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- Publication type:
- Article
Characterization of the renal phenotype in RMND1‐related mitochondrial disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
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- Publication type:
- Article
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2‐related mitochondrial disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63589
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- Publication type:
- Article
Heteroplasmic pathogenic m.12315G>A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63461
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- Publication type:
- Article
Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1366, doi. 10.1002/ajmg.a.63131
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- Publication type:
- Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
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- Publication type:
- Article
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889
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- Publication type:
- Article
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 259, doi. 10.1002/ajmg.a.62482
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- Publication type:
- Article
Expansion of the clinical phenotype of GALE deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3118, doi. 10.1002/ajmg.a.62384
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- Publication type:
- Article
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851
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- Publication type:
- Article
Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2426, doi. 10.1002/ajmg.a.61786
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- Publication type:
- Article
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 755, doi. 10.1002/ajmg.a.61491
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- Publication type:
- Article
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2138, doi. 10.1002/ajmg.a.61288
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- Publication type:
- Article
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1015, doi. 10.1002/ajmg.a.61104
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- Publication type:
- Article
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 803, doi. 10.1002/ajmg.a.61074
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- Publication type:
- Article
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1184, doi. 10.1002/ajmg.a.38654
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- Publication type:
- Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
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- Publication type:
- Article
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2711, doi. 10.1002/ajmg.a.37809
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- Publication type:
- Article
Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192
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- Publication type:
- Article
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144
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- Publication type:
- Article
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 914, doi. 10.1002/ajmg.a.36948
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- Publication type:
- Article
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1891, doi. 10.1002/ajmg.a.35439
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- Publication type:
- Article
Rhombencephalosynapsis is a malformation deserving of further study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2902, doi. 10.1002/ajmg.a.34281
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- Publication type:
- Article
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
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- Publication type:
- Article
Phylogenetic affinities and morphology of the Pliocene cathartiform Dryornis pampeanus Moreno & Mercerat.
- Published in:
- Papers in Palaentology, 2021, v. 7, n. 4, p. 1765, doi. 10.1002/spp2.1361
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- Publication type:
- Article
Human mitochondrial transfer RNAs: Role of pathogenic mutation in disease.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 2, p. 150, doi. 10.1002/mus.20917
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- Publication type:
- Article
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
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- Publication type:
- Article
Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
- Published in:
- Human Genetics, 2005, v. 117, n. 6, p. 565, doi. 10.1007/s00439-005-1341-9
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- Publication type:
- Article
11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans.
- Published in:
- 2021
- By:
- Publication type:
- Abstract
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options.
- Published in:
- 2006
- By:
- Publication type:
- journal article
The Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-Like Episodes (MELAS) Syndrome: A Review of Treatment Options.
- Published in:
- CNS Drugs, 2006, v. 20, n. 6, p. 443, doi. 10.2165/00023210-200620060-00002
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- Publication type:
- Article
Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency.
- Published in:
- Journal of Autism & Developmental Disorders, 2008, v. 38, n. 6, p. 1170, doi. 10.1007/s10803-007-0492-z
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- Publication type:
- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Publication type:
- Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
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- Publication type:
- Article
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
- Published in:
- Advanced Genetics, 2022, v. 3, n. 1, p. 1, doi. 10.1002/ggn2.202100047
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- Publication type:
- Article
Recommendations for the Management of Strokelike Episodes in PatientsWith Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 5, p. 591, doi. 10.1001/jamaneurol.2015.5072
- By:
- Publication type:
- Article
Integración monetaria: la experiencia durante los primeros años del euro.
- Published in:
- Análisis Económico, 2009, v. 24, n. 55, p. 207
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- Publication type:
- Article
A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonica.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 15951, doi. 10.1038/ncomms15951
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- Publication type:
- Article
A new buzzard from the late Pliocene of Argentina.
- Published in:
- Acta Palaeontologica Polonica, 2021, v. 66, n. 4, p. 779, doi. 10.4202/app.00933.2021
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 4, p. 482, doi. 10.1002/ana.21689
- By:
- Publication type:
- Article
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 557
- By:
- Publication type:
- Article
Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Phenylbutyrate reduces plasma leucine concentrations without affecting the flux of leucine.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A335, doi. 10.1096/fasebj.21.5.a335
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- Publication type:
- Article
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
- Published in:
- BMC Pediatrics, 2002, v. 2, p. 12, doi. 10.1186/1471-2431-2-12
- By:
- Publication type:
- Article