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Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 9, p. 6289, doi. 10.1007/s00415-024-12600-0
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- Publication type:
- Article
Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?
- Published in:
- 2016
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- Publication type:
- case study
Focal dystonia as a presenting sign of spinocerebellar ataxia 17.
- Published in:
- Movement Disorders, 2004, v. 19, n. 2, p. 217, doi. 10.1002/mds.10600
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- Publication type:
- Article
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
- Published in:
- Muscles (2813-0413), 2024, v. 3, n. 1, p. 100, doi. 10.3390/muscles3010010
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- Publication type:
- Article
R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1.
- Published in:
- Ophthalmologica, 2001, v. 215, n. 6, p. 444, doi. 10.1159/000050906
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- Publication type:
- Article
Präimplantationsdiagnostik.
- Published in:
- Medizinische Genetik, 2016, v. 28, n. 3, p. 304, doi. 10.1007/s11825-016-0096-0
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- Publication type:
- Article
Präimplantationsdiagnostik.
- Published in:
- Medizinische Genetik, 2014, v. 26, n. 4, p. 417, doi. 10.1007/s11825-014-0018-y
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- Publication type:
- Article
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
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- Publication type:
- Article
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 972, doi. 10.1002/mdc3.13258
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- Publication type:
- Article
Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1524, doi. 10.1002/acn3.51403
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- Publication type:
- Article
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
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- Genes, 2022, v. 13, n. 2, p. 169, doi. 10.3390/genes13020169
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- Publication type:
- Article
Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 118, doi. 10.1038/sj.ejhg.5201286
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- Publication type:
- Article
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles.
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- European Journal of Human Genetics, 2002, v. 10, n. 3, p. 204
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- Publication type:
- Article
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 160
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- Publication type:
- Article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1021, doi. 10.1038/ng.677
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- Publication type:
- Article
ANKRD11 variants: KBG syndrome and beyond.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 187, doi. 10.1111/cge.13977
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- Publication type:
- Article
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.
- Published in:
- 2017
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- Publication type:
- Letter
Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 7, p. 1, doi. 10.1002/ccr3.4527
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- Publication type:
- Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
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- Publication type:
- Article
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9476
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- Publication type:
- Article
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.
- Published in:
- 2019
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- Publication type:
- Letter
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3250, doi. 10.1093/brain/awm271
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- Publication type:
- Article
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 7, p. 1223, doi. 10.1007/s00415-011-5905-4
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- Publication type:
- Article
Spinocerebellar ataxia type 4 and 16q22.1-linked Japanese ataxia are not allelic.
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- Journal of Neurology, 2008, v. 255, n. 4, p. 612, doi. 10.1007/s00415-008-0771-4
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- Publication type:
- Article
Aprataxin mutations are a rare cause of early onset ataxia in Germany.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 5, p. 591, doi. 10.1007/s00415-004-0374-7
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- Publication type:
- Article
Phenotypical variability of expanded alleles in the TATA-binding protein gene : Reduced penetrance in SCA17?
- Published in:
- Journal of Neurology, 2003, v. 250, n. 2, p. 161, doi. 10.1007/s00415-003-0958-7
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- Publication type:
- Article
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 703, doi. 10.1002/humu.23000
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- Publication type:
- Article
Microdeletion 5q14.3 and anomalies of brain development.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2124, doi. 10.1002/ajmg.a.36020
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- Publication type:
- Article
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 21, doi. 10.1002/mgg3.256
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- Publication type:
- Article
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
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- Publication type:
- Article