Found: 44
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Complex effects on Ca<sub>V</sub>2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12789-y
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- Publication type:
- Article
GM1 Gangliosidosis—A Mini-Review.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878
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- Publication type:
- Article
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China.
- Published in:
- Frontiers of Medicine, 2013, v. 7, n. 3, p. 389, doi. 10.1007/s11684-013-0281-3
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- Publication type:
- Article
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 695, doi. 10.3390/jcm9030695
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- Publication type:
- Article
Adults with lysosomal storage diseases in the undiagnosed diseases network.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2013
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- Publication type:
- Article
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1544
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- Publication type:
- Article
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
- Published in:
- 2016
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- Publication type:
- journal article
Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 711, doi. 10.1002/ajmg.a.63064
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- Publication type:
- Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
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- Publication type:
- Article
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2768, doi. 10.1002/ajmg.a.40628
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- Publication type:
- Article
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 634, doi. 10.1002/ajmg.a.37468
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- Publication type:
- Article
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1944, doi. 10.1002/ajmg.a.37090
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- Publication type:
- Article
MED23-associated intellectual disability in a non-consanguineous family.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1374, doi. 10.1002/ajmg.a.37047
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- Publication type:
- Article
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2892, doi. 10.1002/ajmg.a.36709
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- Publication type:
- Article
Corrigendum: Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- 2008
- By:
- Publication type:
- Correction Notice
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
- Published in:
- Nature Genetics, 2007, v. 39, n. 3, p. 359, doi. 10.1038/ng1968
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- Publication type:
- Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
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- Publication type:
- Article
Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y
- By:
- Publication type:
- Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
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- Publication type:
- Article
Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases.
- Published in:
- Glycobiology, 2000, v. 10, n. 12, p. 1249, doi. 10.1093/glycob/10.12.1249
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- Publication type:
- Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
- By:
- Publication type:
- Article
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03083-3
- By:
- Publication type:
- Article
Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.
- Published in:
- Frontiers in Neuroimaging, 2024, p. 1, doi. 10.3389/fnimg.2024.1410848
- By:
- Publication type:
- Article
Distribution of enzyme-bearing cells in GM<sub>2</sub> gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
- Published in:
- Acta Neuropathologica, 2000, v. 99, n. 2, p. 161, doi. 10.1007/PL00007420
- By:
- Publication type:
- Article
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 154, doi. 10.1002/acn3.661
- By:
- Publication type:
- Article
A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).
- Published in:
- 2020
- By:
- Publication type:
- journal article
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Gene expression changes in Tay–Sachs disease begin early in fetal brain development.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 687, doi. 10.1002/jimd.12596
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- Publication type:
- Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
- By:
- Publication type:
- Article
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
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- Publication type:
- Article
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3050, doi. 10.1093/hmg/ddv057
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- Publication type:
- Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
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- Publication type:
- Article
Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1 H NMR-Linked Metabolomics Strategy.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 3, p. 572, doi. 10.3390/cells10030572
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- Publication type:
- Article
Monoaminergic Effects of Folinic Acid, l-DOPA, and 5-Hydroxytryptophan in Dihydropteridine Reductase Deficiency.
- Published in:
- Journal of Neurochemistry, 1995, v. 64, n. 6, p. 2810, doi. 10.1046/j.1471-4159.1995.64062810.x
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- Publication type:
- Article
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002325
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- Publication type:
- Article
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 532, doi. 10.1002/humu.23722
- By:
- Publication type:
- Article
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675
- By:
- Publication type:
- Article
Cover Image, Volume 38, Issue 10.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. i, doi. 10.1002/humu.23317
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- Publication type:
- Article
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1412, doi. 10.1002/humu.23287
- By:
- Publication type:
- Article
Detecting false-positive signals in exome sequencing.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033
- By:
- Publication type:
- Article
Analysis of DNA sequence variants detected by high-throughput sequencing.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035
- By:
- Publication type:
- Article
Molecular pathophysiology in Tay–Sachs and Sandhoff diseases as revealed by gene expression profiling.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 11, p. 1343, doi. 10.1093/hmg/11.11.1343
- By:
- Publication type:
- Article
The NIH Undiagnosed Diseases Program: Lessons Learned.
- Published in:
- 2011
- By:
- Publication type:
- Opinion