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Your search keyword '"FAMILIAL spastic paraplegia"' showing total 30 results

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30 results on '"FAMILIAL spastic paraplegia"'

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1. De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.

2. Stress-Related Chronic Fatigue Syndrome: A Case Report with a Positive Response to Alpha-Methyl-P-Tyrosine (AMPT) Treatment.

3. The Role of Glia in Wilson's Disease: Clinical, Neuroimaging, Neuropathological and Molecular Perspectives.

4. Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.

5. A HGF Mutation in the Familial Case of Primary Lymphedema: A Report.

6. New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

7. SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

8. Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

9. Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice.

10. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.

11. A Drosophila Model Reveals the Potential Role for mtt in Retinal Disease.

12. Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics.

13. Advancements in 2D and 3D In Vitro Models for Studying Neuromuscular Diseases.

14. Microscopic and Biochemical Hallmarks of BICD2 -Associated Muscle Pathology toward the Evaluation of Novel Variants.

15. Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.

16. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review.

17. Converging Role for REEP1/SPG31 in Oxidative Stress.

18. Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B 4.

19. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.

20. KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.

21. mRNA Capture Sequencing and RT-qPCR for the Detection of Pathognomonic, Novel, and Secondary Fusion Transcripts in FFPE Tissue: A Sarcoma Showcase.

22. The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

23. Hereditary Spastic Paraplegia: An Update.

24. Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain.

25. Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.

26. New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

27. Molecular Features and Clinical Management of Hereditary Gynecological Cancers.

28. Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.

29. A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

30. Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.

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