Found: 11
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Advances in hyperekplexia and other startle syndromes.
- Published in:
- 2021
- By:
- Publication type:
- journal article
New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 200, doi. 10.1002/acn3.50985
- By:
- Publication type:
- Article
Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1062, doi. 10.1002/acn3.787
- By:
- Publication type:
- Article
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 545, doi. 10.1002/mds.28865
- By:
- Publication type:
- Article
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.
- Published in:
- Translational Neurodegeneration, 2019, v. 8, n. 1, p. 1, doi. 10.1186/s40035-019-0171-y
- By:
- Publication type:
- Article
Altered structural and functional connectivity in CSF1R-related leukoencephalopathy.
- Published in:
- Brain Imaging & Behavior, 2021, v. 15, n. 3, p. 1655, doi. 10.1007/s11682-020-00360-0
- By:
- Publication type:
- Article
Dopa-responsive dystonia caused by TH gene variations: two cases report.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2024, v. 24, n. 4, p. 285, doi. 10.3969/j.issn.1672-6731.2024.04.014
- By:
- Publication type:
- Article
Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 4, p. 306, doi. 10.3969/j.issn.1672-6731.2022.04.013
- By:
- Publication type:
- Article
Advances in the correlation between cerebral small vessel disease and sleep disorders.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 5, p. 423, doi. 10.3969/j.issn.1672-6731.2021.05.016
- By:
- Publication type:
- Article
Research progress of hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 2, p. 125, doi. 10.3969/j.issn.1672-6731.2019.02.010
- By:
- Publication type:
- Article