Found: 26
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Winchester syndrome: the progression of radiological findings over a 23-year period.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
- By:
- Publication type:
- Article
CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.
- Published in:
- 2015
- By:
- Publication type:
- commentary
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0568-y
- By:
- Publication type:
- Article
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2154, doi. 10.3390/genes14122154
- By:
- Publication type:
- Article
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 8, p. 1, doi. 10.15252/emmm.202216090
- By:
- Publication type:
- Article
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
- By:
- Publication type:
- Article
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66923-9
- By:
- Publication type:
- Article
Extragestational [beta]HCG Secretion Due to an Isolated Lung Epithelioid Trophoblastic Tumor: Microsatellite Genotyping of Tumoral Cells Confirmed Their Placental Origin and Oriented Specific Chemotherapy.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Ovarian dysgerminoma and Apert syndrome.
- Published in:
- Pediatric Blood & Cancer, 2008, v. 50, n. 3, p. 696, doi. 10.1002/pbc.21156
- By:
- Publication type:
- Article
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
- Published in:
- 2016
- By:
- Publication type:
- letter
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
- Published in:
- 2015
- By:
- Publication type:
- letter
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e314, doi. 10.1093/brain/awu300
- By:
- Publication type:
- Article
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e310, doi. 10.1093/brain/awu228
- By:
- Publication type:
- Article
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e312, doi. 10.1093/brain/awu267
- By:
- Publication type:
- Article
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2329, doi. 10.1093/brain/awu138
- By:
- Publication type:
- Article
Reply: MFN2, a new gene responsible for mitochondrial DNA depletion.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e224, doi. 10.1093/brain/aws112
- By:
- Publication type:
- Article
Reply: MFN2 mutations cause compensatory mitochondrial DNA proliferation.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e220, doi. 10.1093/brain/aws052
- By:
- Publication type:
- Article
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 23, doi. 10.1093/brain/awr323
- By:
- Publication type:
- Article
Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1394, doi. 10.1002/humu.24037
- By:
- Publication type:
- Article
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. 1354, doi. 10.1002/humu.23120
- By:
- Publication type:
- Article
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
- By:
- Publication type:
- Article
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca<sup>2+</sup> homeostasis and ER-mitochondria interactions.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1599, doi. 10.1093/hmg/ddx060
- By:
- Publication type:
- Article