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Correction: Novel CDKL5 targets identified in human iPSC-derived neurons.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Novel CDKL5 targets identified in human iPSC-derived neurons.
- Published in:
- Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05389-8
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- Publication type:
- Article
Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation.
- Published in:
- Angewandte Chemie, 2019, v. 131, n. 26, p. 8876, doi. 10.1002/ange.201903245
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- Publication type:
- Article
Analysis of conformational exchange processes using methyl-TROSY-based Hahn echo measurements of quadruple-quantum relaxation.
- Published in:
- Magnetic Resonance, 2021, v. 2, n. 2, p. 777, doi. 10.5194/mr-2-777-2021
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- Publication type:
- Article
Ethylmalonic encephalopathy masquerading as meningococcemia.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006193
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- Publication type:
- Article
Australian children living with rare diseases: health service use and barriers to accessing care.
- Published in:
- World Journal of Pediatrics, 2023, v. 19, n. 7, p. 701, doi. 10.1007/s12519-022-00675-6
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- Publication type:
- Article
Measurement of Amyloid Fibril Length Distributions by Inclusion of Rotational Motion in Solution NMR Diffusion Measurements.
- Published in:
- Angewandte Chemie International Edition, 2008, v. 47, n. 18, p. 3385, doi. 10.1002/anie.200703915
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- Publication type:
- Article
A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis.
- Published in:
- PEDS: Protein Engineering, Design & Selection, 2010, v. 23, n. 7, p. 499, doi. 10.1093/protein/gzq023
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- Publication type:
- Article
Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 28, p. 9612, doi. 10.1523/JNEUROSCI.1763-10.2010
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- Publication type:
- Article
Alleviating Transcriptional Inhibition of the Norepinephrine Slc6a2 Transporter Gene in Depolarized Neurons.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 4, p. 1494, doi. 10.1523/JNEUROSCI.4675-09.2010
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- Publication type:
- Article
Structural investigation of the folding of an immunoglobulin domain on the ribosome using NMR Spectroscopy (LB197).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.lb197
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- Publication type:
- Article
Hemodynamic response to hyperventilation test in healthy volunteers.
- Published in:
- Clinical Cardiology, 1995, v. 18, n. 11, p. 636, doi. 10.1002/clc.4960181109
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- Publication type:
- Article
Early Nascent Chain Folding Events on the Ribosome.
- Published in:
- Israel Journal of Chemistry, 2010, v. 50, n. 1, p. 99, doi. 10.1002/ijch.201000015
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- Publication type:
- Article
Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.
- Published in:
- Nephrology, 2022, v. 27, n. 7, p. 640, doi. 10.1111/nep.14023
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- Publication type:
- Article
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2297, doi. 10.1093/hmg/ddu747
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- Publication type:
- Article
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4460, doi. 10.1093/hmg/ddt295
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- Publication type:
- Article
Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2<sup>308</sup> allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1851, doi. 10.1093/hmg/ddi191
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- Publication type:
- Article
Enlarged Temporal Lobes in Turner Syndrome: An X-chromosome Effect?
- Published in:
- Cerebral Cortex, 2004, v. 14, n. 2, p. 156, doi. 10.1093/cercor/bhg114
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- Publication type:
- Article
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10353, doi. 10.1038/ncomms10353
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- Publication type:
- Article
Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1171, doi. 10.1038/ejhg.2014.249
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- Publication type:
- Article
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 522, doi. 10.1038/ejhg.2012.208
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- Publication type:
- Article
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development.
- Published in:
- Biochemical Society Transactions, 2022, v. 50, n. 4, p. 1207, doi. 10.1042/BST20220791
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- Publication type:
- Article
The collective burden of childhood dementia: a scoping review.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4446, doi. 10.1093/brain/awad242
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- Publication type:
- Article
Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
- Published in:
- 2022
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- Publication type:
- editorial
Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.
- Published in:
- 2020
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- Publication type:
- letter
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
- Published in:
- 2020
- By:
- Publication type:
- letter
Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.
- Published in:
- 2020
- By:
- Publication type:
- letter
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 4, p. 696, doi. 10.1002/ana.26716
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- Publication type:
- Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
- Published in:
- 2017
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- Publication type:
- journal article
Morphology-Dependent Interactions between α-Synuclein Monomers and Fibrils.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5191, doi. 10.3390/ijms24065191
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- Publication type:
- Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
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- Publication type:
- Article
Bayesian reweighting of biomolecular structural ensembles using heterogeneous cryo-EM maps with the cryoENsemble method.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68468-7
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- Publication type:
- Article
Bayesian reweighting of biomolecular structural ensembles using heterogeneous cryo-EM maps with the cryoENsemble method.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68468-7
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- Publication type:
- Article
Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience.
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- Genes, 2023, v. 14, n. 8, p. 1607, doi. 10.3390/genes14081607
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- Publication type:
- Article
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 607, doi. 10.3390/genes12040607
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- Publication type:
- Article
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 266, doi. 10.1038/ejhg.2012.156
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- Publication type:
- Article
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1218, doi. 10.1038/sj.ejhg.5201911
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- Publication type:
- Article
Rett syndrome: new clinical and molecular insights.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 896, doi. 10.1038/sj.ejhg.5201580
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- Publication type:
- Article
p.R270X MECP2 mutation and mortality in Rett syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479
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- Publication type:
- Article
Early onset seizures and Rett-like features associated with mutations in CDKL5.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1113, doi. 10.1038/sj.ejhg.5201451
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- Publication type:
- Article
Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity.
- Published in:
- Developmental Neurobiology (19328451), 2016, v. 76, n. 2, p. 209, doi. 10.1002/dneu.22308
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- Publication type:
- Article
An integrative approach combining ion mobility mass spectrometry, X-ray crystallography, and nuclear magnetic resonance spectroscopy to study the conformational dynamics of α<sub>1</sub>-antitrypsin upon ligand binding.
- Published in:
- Protein Science: A Publication of the Protein Society, 2015, v. 24, n. 8, p. 1301, doi. 10.1002/pro.2706
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- Publication type:
- Article
Molecular determinants of the aggregation behavior of α- and β-synuclein.
- Published in:
- Protein Science: A Publication of the Protein Society, 2008, v. 17, n. 5, p. 887, doi. 10.1110/ps.073181508
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- Publication type:
- Article
Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome <i>b</i> Protein Expression.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004034
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- Publication type:
- Article
Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domain.
- Published in:
- Biochemical Journal, 2014, v. 462, n. 2, p. 373, doi. 10.1042/BJ20131474
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- Publication type:
- Article
Parental health spillover effects of paediatric rare genetic conditions.
- Published in:
- Quality of Life Research, 2020, v. 29, n. 9, p. 2445, doi. 10.1007/s11136-020-02497-3
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- Publication type:
- Article
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 214, doi. 10.1111/cge.14447
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- Publication type:
- Article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473
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- Publication type:
- Article
The utility of next-generation sequencing in gene discovery for mutation-negative patients with Rett syndrome.
- Published in:
- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00266
- By:
- Publication type:
- Article
Cross‐Peaks in Simple Two‐Dimensional NMR Experiments from Chemical Exchange of Transverse Magnetisation.
- Published in:
- Angewandte Chemie International Edition, 2019, v. 58, n. 26, p. 8784, doi. 10.1002/anie.201903245
- By:
- Publication type:
- Article