Works about FAMILIAL spastic paraplegia
Results: 995
Flexibility, Resistance, Aerobic, Movement Execution (FRAME) training program to improve gait capacity in adults with Hereditary Spastic Paraplegia: protocol for a single-cohort feasibility trial.
- Published in:
- Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1441512
- By:
- Publication type:
- Article
Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2025, p. 1, doi. 10.1177/23247096251323173
- By:
- Publication type:
- Article
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing.
- Published in:
- Archives of Dermatological Research, 2019, v. 311, n. 4, p. 265, doi. 10.1007/s00403-019-01894-0
- By:
- Publication type:
- Article
Cervical Spondylotic Amyotrophy: Case Series and Review of the Literature.
- Published in:
- Neurospine, 2019, v. 16, n. 3, p. 579, doi. 10.14245/ns.1938210.105
- By:
- Publication type:
- Article
A rare case of the complex phenotype of hereditary spastic paraparesis due to a mutation in a novel gene variant.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1587, doi. 10.1007/s00439-023-02599-1
- By:
- Publication type:
- Article
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1303, doi. 10.1007/s00439-023-02577-7
- By:
- Publication type:
- Article
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 73, doi. 10.1007/s00439-022-02481-6
- By:
- Publication type:
- Article
Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 9, p. 4373, doi. 10.1007/s10072-024-07500-0
- By:
- Publication type:
- Article
Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 8, p. 3845, doi. 10.1007/s10072-024-07423-w
- By:
- Publication type:
- Article
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 6, p. 2705, doi. 10.1007/s10072-023-07271-0
- By:
- Publication type:
- Article
A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 4, p. 1749, doi. 10.1007/s10072-024-07334-w
- By:
- Publication type:
- Article
Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 3, p. 963, doi. 10.1007/s10072-023-07200-1
- By:
- Publication type:
- Article
Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 2, p. 799, doi. 10.1007/s10072-023-07117-9
- By:
- Publication type:
- Article
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 12, p. 4359, doi. 10.1007/s10072-023-06932-4
- By:
- Publication type:
- Article
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 10, p. 3379, doi. 10.1007/s10072-023-07044-9
- By:
- Publication type:
- Article
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3303, doi. 10.1007/s10072-023-06867-w
- By:
- Publication type:
- Article
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2599, doi. 10.1007/s10072-023-06707-x
- By:
- Publication type:
- Article
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 5, p. 1795, doi. 10.1007/s10072-022-06546-2
- By:
- Publication type:
- Article
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 3, p. 947, doi. 10.1007/s10072-022-06516-8
- By:
- Publication type:
- Article
Spinal cord stimulation may improve gait and cognition in hereditary spastic paraplegia with mental retardation: a case report.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 3, p. 961, doi. 10.1007/s10072-022-06487-w
- By:
- Publication type:
- Article
Progressive motor neuron syndromes with single CNS lesions and CSF oligoclonal bands: never forget solitary sclerosis!
- Published in:
- Neurological Sciences, 2022, v. 43, n. 12, p. 6951, doi. 10.1007/s10072-022-06407-y
- By:
- Publication type:
- Article
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
The second family affected with a PRDM8-related disease.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 6, p. 3847, doi. 10.1007/s10072-021-05815-w
- By:
- Publication type:
- Article
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 12, p. 5311, doi. 10.1007/s10072-021-05262-7
- By:
- Publication type:
- Article
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
- By:
- Publication type:
- Article
Hereditary spastic paraplegia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 883, doi. 10.1007/s10072-020-04981-7
- By:
- Publication type:
- Article
Highlights of the issue 7, 2020.
- Published in:
- 2020
- Publication type:
- Calendar
Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 7, p. 1931, doi. 10.1007/s10072-020-04341-5
- By:
- Publication type:
- Article
Eye movement changes in autosomal dominant spinocerebellar ataxias.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 7, p. 1719, doi. 10.1007/s10072-020-04318-4
- By:
- Publication type:
- Article
Clinico-diagnostic features of neuralgic amyotrophy in childhood.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 7, p. 1735, doi. 10.1007/s10072-020-04314-8
- By:
- Publication type:
- Article
Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
SPG8 mutations in Italian families: clinical data and literature review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Highlights of the issue 5, 2019.
- Published in:
- 2019
- Publication type:
- Calendar
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Decreasing <sup>123</sup>I-ioflupane SPECT accumulation and <sup>123</sup>I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Highlights of the Issue 12, 2018.
- Published in:
- 2018
- Publication type:
- journal article
Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Identification of a novel SPG4 tandem base substitution in a Chinese hereditary spastic paraplegia family.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 8, p. 1287, doi. 10.1007/s10072-014-1707-7
- By:
- Publication type:
- Article
Clinical and Molecular Genetic Characterization of Waardenburg Syndrome.
- Published in:
- Egyptian Academic Journal of Biological Sciences, C Physiology & Molecular Biology, 2022, v. 14, n. 1, p. 277, doi. 10.21608/EAJBSC.2022.229309
- By:
- Publication type:
- Article
Pierwotne stwardnienie boczne - przegląd piśmiennictwa.
- Published in:
- Current Neurology / Aktualno?ci Neurologiczne, 2019, v. 19, n. 4, p. 162, doi. 10.15557/AN.2019.0022
- By:
- Publication type:
- Article
Late onset distal hereditary motor neuropathy type IIB (dHMN IIB) – case reports.
- Published in:
- Current Neurology / Aktualno?ci Neurologiczne, 2018, v. 18, n. 3, p. 144, doi. 10.15557/AN.2018.0020
- By:
- Publication type:
- Article
Non‐invasive spinal direct current simulation for spasticity therapy following spinal cord injury: mechanistic insights contributing to long‐term treatment effects.
- Published in:
- Journal of Physiology, 2019, v. 597, n. 8, p. 2121, doi. 10.1113/JP277740
- By:
- Publication type:
- Article
Article update.
- Published in:
- Journal of Physiology, 2017, v. 595, n. 11, p. 3679, doi. 10.1113/JP273893
- Publication type:
- Article
Exploring the neuroprotective potential of Nrf2-pathway activators against annonacin toxicity.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70837-1
- By:
- Publication type:
- Article
Vitamin D<sub>3</sub> deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53057-5
- By:
- Publication type:
- Article