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Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
- Published in:
- Movement Disorders, 2013, v. 28, n. 10, p. 1439, doi. 10.1002/mds.25515
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- Publication type:
- Article
Consequences of aquaporin 2 tetramerization for genetics and routing.
- Published in:
- Nephrology Dialysis Transplantation, 2000, v. 15, p. 26, doi. 10.1093/ndt/15.suppl_6.26
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- Publication type:
- Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
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- Publication type:
- Article
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018
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- Publication type:
- Article
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
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- Publication type:
- Article
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 7, p. 1046, doi. 10.3390/cells12071046
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- Publication type:
- Article
Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2008, v. 455, n. 6, p. 1041, doi. 10.1007/s00424-007-0364-6
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- Publication type:
- Article
Physiological relevance of aquaporins: luxury or necessity?
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2000, v. 440, n. 4, p. 513, doi. 10.1007/s004240000317
- By:
- Publication type:
- Article
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
- Published in:
- Journal of Cell Biology, 2003, v. 163, n. 5, p. 1099, doi. 10.1083/jcb.200309017
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- Publication type:
- Article
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44588-3
- By:
- Publication type:
- Article
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1304520
- By:
- Publication type:
- Article
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
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- Publication type:
- Article
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
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- Publication type:
- Article
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3045, doi. 10.1093/hmg/ddh339
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- Publication type:
- Article
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
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- Publication type:
- Article
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
- Published in:
- 2020
- By:
- Publication type:
- letter
De novo SPAST mutations may cause a complex SPG4 phenotype.
- Published in:
- 2019
- By:
- Publication type:
- letter
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
- Published in:
- 2017
- By:
- Publication type:
- letter
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 2, p. 365, doi. 10.1002/ana.26826
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- Publication type:
- Article
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
- Published in:
- 2018
- By:
- Publication type:
- journal article
An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
- Published in:
- EMBO Journal, 1999, v. 18, n. 9, p. 2394, doi. 10.1093/emboj/18.9.2394
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- Publication type:
- Article
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16147, doi. 10.3390/ijms242216147
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- Publication type:
- Article
An E280K Missense Variant in KCND3 /Kv4.3—Case Report and Functional Characterization.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10924, doi. 10.3390/ijms241310924
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- Publication type:
- Article
DTYMK is essential for genome integrity and neuronal survival.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Publication type:
- Article
Genome sequencing as a generic diagnostic strategy for rare disease.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
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- Publication type:
- Article
Clinical utility gene card for: Gitelman syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.14
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- Publication type:
- Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
- Published in:
- Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
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- Publication type:
- Article
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 6, p. 952, doi. 10.1093/ndt/gfv014
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- Publication type:
- Article
Optical Genome Mapping for Applications in Repeat Expansion Disorders.
- Published in:
- Current Protocols, 2024, v. 4, n. 7, p. 1, doi. 10.1002/cpz1.1094
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- Publication type:
- Article
Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 2, p. e48, doi. 10.1111/pde.12740
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- Publication type:
- Article
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
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- Publication type:
- Article
Genetic characterization of primary lateral sclerosis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3970, doi. 10.1007/s00415-023-11746-7
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- Publication type:
- Article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
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- Publication type:
- Article
The complexities of CACNA1A in clinical neurogenetics.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
- By:
- Publication type:
- Article
Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 7, p. 1765, doi. 10.1007/s00415-013-6870-x
- By:
- Publication type:
- Article
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor ( RYR1) gene.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 6, p. 1504, doi. 10.1007/s00415-012-6817-7
- By:
- Publication type:
- Article
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 5, p. 1286, doi. 10.1007/s00415-012-6792-z
- By:
- Publication type:
- Article
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048068
- By:
- Publication type:
- Article
Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048068
- By:
- Publication type:
- Article
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.
- Published in:
- Cerebellum, 2017, v. 16, n. 1, p. 268, doi. 10.1007/s12311-016-0786-9
- By:
- Publication type:
- Article
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 554, doi. 10.1002/jimd.12321
- By:
- Publication type:
- Article
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
- Published in:
- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac292
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- Publication type:
- Article
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
- Published in:
- Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac224
- By:
- Publication type:
- Article