Found: 18
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The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
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- Article
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
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- Neurogenetics, 2014, v. 15, n. 1, p. 41, doi. 10.1007/s10048-013-0381-x
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- Article
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
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- Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z
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- Article
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
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- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2166, doi. 10.1093/hmg/dds032
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- Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
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- 2021
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- Publication type:
- journal article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
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- 2017
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- journal article
Type I Interferon Signature in NOTCH1‐Related Leukoencephalopathy.
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- Annals of Neurology, 2023, v. 93, n. 5, p. 1041, doi. 10.1002/ana.26631
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- Article
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6723, doi. 10.3390/ijms23126723
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- Article
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
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- Article
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature.
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- 2021
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- journal article
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
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- Cerebellum, 2014, v. 13, n. 1, p. 79, doi. 10.1007/s12311-013-0521-8
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- Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
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- Article
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS).
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 93, doi. 10.3390/brainsci11010093
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- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
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- 2017
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- journal article
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.
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- Children, 2024, v. 11, n. 5, p. 541, doi. 10.3390/children11050541
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- Article
Cobalamin C defect presenting as severe neonatal hyperammonemia.
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- 2011
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- Publication type:
- journal article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
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- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Article
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
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- Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632
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- Article