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Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 6025, doi. 10.1007/s00415-024-12557-0
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- Publication type:
- Article
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
- Published in:
- 2017
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- Publication type:
- case study
Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.
- Published in:
- 2022
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- Publication type:
- Letter
Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.
- Published in:
- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00185-w
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- Publication type:
- Article
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 533, doi. 10.3233/JND-220822
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- Publication type:
- Article
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 6, p. 1289, doi. 10.3390/cells10061289
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
- Published in:
- 2017
- By:
- Publication type:
- case study
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
- Published in:
- Neurogenetics, 2023, v. 24, n. 4, p. 273, doi. 10.1007/s10048-023-00728-6
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- Publication type:
- Article
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
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- Publication type:
- Article
Unraveling haplotype errors in the DFNA33 locus.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1214736
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- Publication type:
- Article
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.
- Published in:
- Rheumatology, 2022, v. 61, n. 5, p. e117, doi. 10.1093/rheumatology/keab866
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- Publication type:
- Article
Genetic diagnosis of Mendelian disorders via RNA sequencing.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/ncomms15824
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- Publication type:
- Article
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214
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- Publication type:
- Article
Quality assurance within the context of genome diagnostics (a german perspective).
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 2, p. 91, doi. 10.1515/medgen-2023-2028
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- Publication type:
- Article
Editorial – Diagnostic genome sequencing in rare disorders.
- Published in:
- 2023
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- Publication type:
- Editorial
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 7, p. e45, doi. 10.1093/brain/awae099
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- Publication type:
- Article
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
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- Publication type:
- Article
prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 1093, doi. 10.1093/brain/awac155
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- Publication type:
- Article
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
- Published in:
- 2022
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- Publication type:
- journal article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Treatable mitochondrial diseases: cofactor metabolism and beyond.
- Published in:
- 2017
- By:
- Publication type:
- letter
Clinical Relevance of Genetic Variants in Juvenile Stroke Patients: A Plea for a Precise Classification.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 3, p. 608, doi. 10.1002/ana.26742
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- Publication type:
- Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel Variants of SOX4 in Patients with Intellectual Disability.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3519, doi. 10.3390/ijms24043519
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- Publication type:
- Article
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2709, doi. 10.3390/ijms24032709
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- Publication type:
- Article
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3240, doi. 10.3390/ijms23063240
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- Publication type:
- Article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Publication type:
- Article
Clinical Characteristics of POC1B -Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5396, doi. 10.3390/ijms22105396
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- Publication type:
- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Publication type:
- Article
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
- Published in:
- Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2024, p. 1, doi. 10.1177/20552173241263491
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- Publication type:
- Article
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
- Published in:
- Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2024, v. 10, n. 3, p. 1, doi. 10.1177/20552173241263491
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- Publication type:
- Article
Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1524, doi. 10.1002/acn3.51403
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- Publication type:
- Article
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189
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- Publication type:
- Article
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 469, doi. 10.1159/000531069
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- Publication type:
- Article
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 201, doi. 10.1159/000528651
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- Publication type:
- Article
Novel HIVEP2 Variants in Patients with Intellectual Disability.
- Published in:
- Molecular Syndromology, 2019, v. 10, n. 4, p. 195, doi. 10.1159/000499060
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- Publication type:
- Article
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline.
- Published in:
- Genes, 2024, v. 15, n. 1, p. 136, doi. 10.3390/genes15010136
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- Publication type:
- Article
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1218, doi. 10.3390/genes13071218
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
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- Publication type:
- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
- Published in:
- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
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- Publication type:
- Article
Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 4, p. 423, doi. 10.1111/cge.14469
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- Publication type:
- Article
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 80, doi. 10.1111/cge.14135
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- Publication type:
- Article
Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051
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- Publication type:
- Article
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 4, p. 453, doi. 10.1111/cge.14016
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- Publication type:
- Article
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 621, doi. 10.1111/cge.13720
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- Publication type:
- Article
Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 134, doi. 10.1111/cge.13547
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- Publication type:
- Article