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Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 56, doi. 10.1111/cge.14510
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- Article
Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6378, doi. 10.3390/ijms25126378
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- Article
The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 2957, doi. 10.1007/s00415-024-12357-6
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- Article
Supra- and infra-tentorial degeneration patterns in primary lateral sclerosis: a multimodal longitudinal neuroradiology study.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3239, doi. 10.1007/s00415-024-12261-z
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- Article
POLR3A-related disorders: expanding the clinical phenotype.
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- Journal of Neurology, 2024, v. 271, n. 6, p. 3635, doi. 10.1007/s00415-024-12265-9
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- Article
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2705, doi. 10.1007/s10072-023-07271-0
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- Article
A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1345081
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- Article
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
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- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10353-8
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- Article
New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 10, p. 5127, doi. 10.3390/ijms25105127
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- Article
A HGF Mutation in the Familial Case of Primary Lymphedema: A Report.
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- 2024
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- Case Study
Shoulder Movement-Centered Measurement and Estimation Scheme for Underarm-Throwing Motions.
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- Sensors (14248220), 2024, v. 24, n. 10, p. 2972, doi. 10.3390/s24102972
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- Article
Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03121-0
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- Article
Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.
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- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1383681
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- Publication type:
- Article
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1751, doi. 10.1093/brain/awad427
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- Article
A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
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- 2024
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- Publication type:
- Case Study
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 615, doi. 10.3390/genes15050615
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- Article
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 5008, doi. 10.3390/ijms25095008
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- Article
Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09446-0
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- Article
Gangliosides as Therapeutic Targets for Neurodegenerative Diseases.
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- Journal of Lipids, 2024, v. 2024, p. 1, doi. 10.1155/2024/4530255
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- Article
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 1067, doi. 10.1002/acn3.52037
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- Article
An Automated Imaging-Based Screen for Genetic Modulators of ER Organisation in Cultured Human Cells.
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- Cells (2073-4409), 2024, v. 13, n. 7, p. 577, doi. 10.3390/cells13070577
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- Article
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
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- Genes, 2024, v. 15, n. 4, p. 485, doi. 10.3390/genes15040485
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- Article
Ears of the lynx: A neuroradiological totemism.
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- Journal of Neurosciences in Rural Practice, 2024, v. 15, n. 2, p. 402, doi. 10.25259/JNRP_428_2023
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- Article
Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7‐Related Hereditary Spastic Paraplegia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 441, doi. 10.1002/mdc3.13991
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- Article
A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1749, doi. 10.1007/s10072-024-07334-w
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- Article
Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia.
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- PLoS ONE, 2024, v. 19, n. 4, p. 1, doi. 10.1371/journal.pone.0301452
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- Article
Early life, biological ageing and subsequent disease susceptibility in later years.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 4, p. 241, doi. 10.1093/qjmed/hcae047
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- Publication type:
- Article
Frequent Genetic Variants of Autosomal Recessive Nonsyndromic Forms of Inherited Retinal Diseases in the Russian Federation.
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- Russian Journal of Genetics, 2024, v. 60, n. 4, p. 503, doi. 10.1134/S1022795424040100
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- Publication type:
- Article
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
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- Tohoku Journal of Experimental Medicine, 2024, v. 262, n. 4, p. 239, doi. 10.1620/tjem.2024.J004
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- Article
Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53057-5
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- Article
Editorial: Sensory control of posture and gait: integration and mechanisms to maintain balance during different sensory conditions.
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- Frontiers in Human Neuroscience, 2024, p. 1, doi. 10.3389/fnhum.2024.1378599
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- Article
Editorial: Reviews in cellular neurophysiology 2022: neurophysiological mechanisms in the aging brain.
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- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1385783
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- Article
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46354-0
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- Article
STREAMLINE HUB: a high capacity hub for research of neurodevelopmental disorders in the Western Balkan region.
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- Chemical Industry / Hemijska Industrija, 2024, v. 78, p. 78
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- Article
Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 800, doi. 10.1002/acn3.51981
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- Article
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
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- Annals of Neurology, 2024, v. 95, n. 3, p. 442, doi. 10.1002/ana.26849
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- Article
Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.
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- Child's Nervous System, 2024, v. 40, n. 3, p. 855, doi. 10.1007/s00381-023-06159-w
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- Article
UNC5C : Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 306, doi. 10.3390/genes15030306
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- Article
Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia—The Neonatal Type of Alexander Disease.
- Published in:
- 2024
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- Publication type:
- Case Study
Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2615, doi. 10.3390/ijms25052615
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- Article
Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.
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- Journal of Epidemiology & Global Health, 2024, v. 14, n. 1, p. 162, doi. 10.1007/s44197-023-00182-5
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- Publication type:
- Article
Activation of a Rhythmic Lower Limb Movement Pattern during the Use of a Multimodal Brain–Computer Interface: A Case Study of a Clinically Complete Spinal Cord Injury.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 3, p. 396, doi. 10.3390/life14030396
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- Publication type:
- Article
Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 963, doi. 10.1007/s10072-023-07200-1
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- Publication type:
- Article
A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 3, p. 223, doi. 10.1093/qjmed/hcad258
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- Publication type:
- Article
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1299554
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- Article
Editorial: Reviews in neurorehabilitation.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1366899
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- Article
Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.
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- Frontiers in Integrative Neuroscience, 2024, p. 1, doi. 10.3389/fnint.2023.1275794
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- Article
Alterations in KIDINS220/ARMS Expression Impact Sensory Processing and Social Behavior in Adult Mice.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2334, doi. 10.3390/ijms25042334
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- Article
Editorial: Genetic research into neurodegenerative disorders.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1367627
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- Article
Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
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- Hereditas, 2024, v. 161, p. 1, doi. 10.1186/s41065-024-00312-4
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- Publication type:
- Article