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Evolutionary and Structural Analyses of GDAP1, Involved in Charcot-Marie-Tooth Disease, Characterize a Novel Class of Glutathione Transferase-Related Genes.
- Published in:
- Molecular Biology & Evolution, 2004, v. 21, n. 1, p. 176
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- Publication type:
- Article
Coenzyme Q<sub>10</sub>-responsive ataxia: 2-year-treatment follow-up.
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- Movement Disorders, 2010, v. 25, n. 9, p. 1262, doi. 10.1002/mds.23129
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- Publication type:
- Article
Novel human pathological mutations.
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- 2009
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- Publication type:
- Correction notice
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 86, doi. 10.1007/s004399900201
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- Publication type:
- Article
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
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- Publication type:
- Article
Gut microbiota trajectory in early life may predict development of celiac disease.
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- Microbiome, 2018, v. 6, p. 1, doi. 10.1186/s40168-018-0415-6
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- Publication type:
- Article
ETHICS, DATA AND INFORMATION IN GENOME SEQUENCING IN NEWBORNS.
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- Studia Universitatis Babes-Bolyai, Bioethica (2011), 2021, v. 65, p. 119, doi. 10.24193/subbbioethica.2021.spiss.77
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- Publication type:
- Article
Correction: ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.
- Published in:
- 2018
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- Publication type:
- Correction Notice
ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197254
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- Publication type:
- Article
Mitochondrial pathophysiology in Friedreich's ataxia.
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- Journal of Neurochemistry, 2013, v. 126, p. 53, doi. 10.1111/jnc.12303
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- Publication type:
- Article
Call for participation in the neurogenetics consortium within the Human Variome Project.
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- Neurogenetics, 2011, v. 12, n. 3, p. 169, doi. 10.1007/s10048-011-0287-4
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- Publication type:
- Article
Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response.
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- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01531-w
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- Publication type:
- Article
Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 213, doi. 10.1093/hmg/ddu440
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- Publication type:
- Article
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 23, p. 4603, doi. 10.1093/hmg/ddp427
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- Publication type:
- Article
Frataxin interacts functionally with mitochondrial electron transport chain proteins.
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- Human Molecular Genetics, 2005, v. 14, n. 15, p. 2091, doi. 10.1093/hmg/ddi214
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- Publication type:
- Article
GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1087, doi. 10.1093/hmg/ddi121
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- Publication type:
- Article
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
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- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 6, p. 1088, doi. 10.1002/aur.2502
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- Publication type:
- Article
Molecular Modelling Hurdle in the Next-Generation Sequencing Era.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7176, doi. 10.3390/ijms23137176
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- Publication type:
- Article
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4274, doi. 10.3390/ijms22084274
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- Publication type:
- Article
Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 403, doi. 10.3390/ijms20020403
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- Publication type:
- Article
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 788, doi. 10.1038/ejhg.2010.14
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- Publication type:
- Article
Provision and quality assurance of preimplantation genetic diagnosis in Europe.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 290, doi. 10.1038/sj.ejhg.5201976
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- Publication type:
- Article
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
- Published in:
- 1997
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- Publication type:
- journal article
Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005115
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- Publication type:
- Article
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
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- Clinical Genetics, 2024, v. 105, n. 3, p. 340, doi. 10.1111/cge.14454
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- Publication type:
- Article
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
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- Clinical Genetics, 2022, v. 101, n. 5/6, p. 481, doi. 10.1111/cge.14113
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- Publication type:
- Article
Ethical questions concerning newborn genetic screening.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 93, doi. 10.1111/cge.13828
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- Publication type:
- Article
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
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- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00124
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- Publication type:
- Article
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
- Published in:
- Frontiers in Cellular Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fncel.2014.00124
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- Publication type:
- Article
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 408, doi. 10.1002/acn3.51731
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- Publication type:
- Article
Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62050-7
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- Publication type:
- Article
Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044649
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- Publication type:
- Article
Influence of Milk-Feeding Type and Genetic Risk of Developing Coeliac Disease on Intestinal Microbiota of Infants: The PROFICEL Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030791
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- Publication type:
- Article
Differential Expression of PGC-1&agr; and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia Fibroblasts.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020666
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- Publication type:
- Article
Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency.
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- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008872
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- Publication type:
- Article
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
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- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.784880
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- Publication type:
- Article
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
- Published in:
- Nature Genetics, 2002, v. 30, n. 1, p. 22, doi. 10.1038/ng798
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- Publication type:
- Article
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
- Published in:
- Glia, 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
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- Publication type:
- Article
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 279, doi. 10.1007/s00439-024-02657-2
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- Publication type:
- Article
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca<sup>2+</sup> entry-stimulated respiration.
- Published in:
- Scientific Reports, 2017, p. 42993, doi. 10.1038/srep42993
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- Publication type:
- Article
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 53, doi. 10.1186/1750-1172-7-53
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- Publication type:
- Article
Autosomal recessive cerebellar ataxias.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 47, doi. 10.1186/1750-1172-1-47
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- Publication type:
- Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
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- Publication type:
- Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
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- Publication type:
- Article
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x
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- Publication type:
- Article
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2010, v. 15, n. 4, p. 334, doi. 10.1111/j.1529-8027.2010.00286.x
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- Publication type:
- Article
Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89300-6
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- Publication type:
- Article
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178376
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- Publication type:
- Article
Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts.
- Published in:
- NanoEthics, 2022, v. 16, n. 3, p. 313, doi. 10.1007/s11569-022-00425-y
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- Publication type:
- Article
Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.
- Published in:
- Human Mutation, 2005, v. 25, n. 5, p. 453, doi. 10.1002/humu.20167
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- Publication type:
- Article