Found: 13
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 2003, doi. 10.1093/brain/awac391
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- Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
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- Article
NOTCH2NLC Intermediate‐Length Repeat Expansion and Parkinson's Disease in Patients of European Descent.
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- Annals of Neurology, 2021, v. 89, n. 3, p. 633, doi. 10.1002/ana.26003
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- Article
Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 101, doi. 10.1002/mdc3.13529
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- Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
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- Article
GGPS1-associated muscular dystrophy with and without hearing loss.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633
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- Article
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
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- Article
Menopausal Hormone Therapy, an Ever-Present Topic: A Pilot Survey about Women's Experience and Medical Doctors' Approach.
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- Medicina (1010660X), 2024, v. 60, n. 5, p. 774, doi. 10.3390/medicina60050774
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- Article
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad244
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- Article
Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.
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- Frontiers in Molecular Neuroscience, 2024, p. 01, doi. 10.3389/fnmol.2024.1222935
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- Article
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
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- Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
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- Publication type:
- Article
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.
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- Movement Disorders, 2023, v. 38, n. 2, p. 347, doi. 10.1002/mds.29280
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- Article
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.806506
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- Article