Found: 34
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Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 11, p. 1, doi. 10.26508/lsa.202302419
- By:
- Publication type:
- Article
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276
- By:
- Publication type:
- Article
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 1, doi. 10.1093/hmg/ddi001
- By:
- Publication type:
- Article
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
- By:
- Publication type:
- Article
The impact of gender, puberty, and pregnancy in patients with POLG disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199
- By:
- Publication type:
- Article
Two transgenic mouse models for ß-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.
- Published in:
- Biochemical Journal, 2016, v. 473, n. 20, p. 3463, doi. 10.1042/BCJ20160594
- By:
- Publication type:
- Article
Status epilepticus in POLG disease: a large multinational study.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5
- By:
- Publication type:
- Article
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19743-4
- By:
- Publication type:
- Article
Exclusive neuronal expression of SUCLA2 in the human brain.
- Published in:
- Brain Structure & Function, 2015, v. 220, n. 1, p. 135, doi. 10.1007/s00429-013-0643-2
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
- By:
- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Cerebral Palsy – Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04312-7
- By:
- Publication type:
- Article
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211
- By:
- Publication type:
- Article
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
- By:
- Publication type:
- Article
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 11, p. e509, doi. 10.1111/j.1651-2227.2012.02807.x
- By:
- Publication type:
- Article
Molecular imaging of α7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [<sup>18</sup>F]NS10743.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2009, v. 36, n. 5, p. 791, doi. 10.1007/s00259-008-1031-7
- By:
- Publication type:
- Article
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 20, doi. 10.1002/jmd2.12209
- By:
- Publication type:
- Article
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 10, doi. 10.1002/jmd2.12198
- By:
- Publication type:
- Article
Genotype and phenotype classification of 29 patients affected by Krabbe disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 35, doi. 10.1002/jmd2.12007
- By:
- Publication type:
- Article
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 853, doi. 10.1093/brain/awl383
- By:
- Publication type:
- Article
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
- Published in:
- Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148
- By:
- Publication type:
- Article
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
- By:
- Publication type:
- Article
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
- By:
- Publication type:
- Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
- By:
- Publication type:
- Article
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149
- By:
- Publication type:
- Article
Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63581
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- Publication type:
- Article
Hearing Impairment and Renal Failure Associated with RMND1 Mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 142, doi. 10.1002/ajmg.a.37399
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- Publication type:
- Article
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427
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- Publication type:
- Article
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 7, p. 365, doi. 10.1159/000528468
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- Publication type:
- Article
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640
- By:
- Publication type:
- Article
A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 11, p. 1505, doi. 10.1177/0883073812458710
- By:
- Publication type:
- Article
The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study.
- Published in:
- BMC Medical Education, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12909-023-04909-7
- By:
- Publication type:
- Article