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25-Hydroxycholesterol as a Signaling Molecule of the Nervous System.
- Published in:
- Biochemistry (00062979), 2022, v. 87, n. 6, p. 524, doi. 10.1134/S0006297922060049
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- Publication type:
- Article
Different expression levels of spartin cause broad spectrum of cellular consequences in human neuroblastoma cells.
- Published in:
- Cell Biology International, 2015, v. 39, n. 9, p. 1007, doi. 10.1002/cbin.10472
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- Publication type:
- Article
Aberrant dopamine transporter and functional connectivity patterns in LRRK2 and GBA mutation carriers.
- Published in:
- NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00285-z
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- Publication type:
- Article
Sindrome di Strümpell-Lorrain: trattamento fisioterapico domiciliare.
- Published in:
- Il Fisioterapista, 2017, n. 4, p. 81
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- Publication type:
- Article
Acute Ophthalmoplegia with Wernicke‐Like MRI Pattern in a Patient with HPDL‐Related Disorder.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1160, doi. 10.1002/mdc3.14153
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- Publication type:
- Article
Periodic Alternating Nystagmus, Ataxia, and Spasticity: A Unique Presentation of Spastic Paraplegia 7‐Related Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 441, doi. 10.1002/mdc3.13991
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- Publication type:
- Article
Spastic Paraplegia Type 30 Associated with Levodopa‐Responsive Parkinsonism.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 8, p. 1228, doi. 10.1002/mdc3.13815
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- Publication type:
- Article
CLCN2‐Related Leukoencephalopathy in Two Unrelated Patients Due to Novel Variants.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 7, p. 1155, doi. 10.1002/mdc3.13783
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- Publication type:
- Article
PNPLA6‐Related Disorder with Levodopa‐Responsive Parkinsonism.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 338, doi. 10.1002/mdc3.13632
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- Publication type:
- Article
"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 120, doi. 10.1002/mdc3.13606
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- Publication type:
- Article
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 1, p. 109, doi. 10.1002/mdc3.13612
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- Publication type:
- Article
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1116, doi. 10.1002/mdc3.13562
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- Publication type:
- Article
Autosomal Recessive Spastic Paraplegia Type 78 Associated with a Homozygous Variant in the ATP13A2 Gene.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 7, p. 997, doi. 10.1002/mdc3.13508
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- Publication type:
- Article
Phenotypic Variability with Two Novel Variants in SPG15: Catching the Lynx by its Ears.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 6, p. 832, doi. 10.1002/mdc3.13474
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- Publication type:
- Article
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 972, doi. 10.1002/mdc3.13258
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- Publication type:
- Article
Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 969, doi. 10.1002/mdc3.13260
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- Publication type:
- Article
Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio‐Cervical Involvement.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 966, doi. 10.1002/mdc3.13257
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- Publication type:
- Article
VPS13D: One Family, Same Mutations, Two Phenotypes.
- Published in:
- Movement Disorders Clinical Practice, 2021, v. 8, n. 5, p. 803, doi. 10.1002/mdc3.13232
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- Publication type:
- Article
Comment on: Diagnosis of Aicardi‐Goutières Syndrome in Adults.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 5, p. 583, doi. 10.1002/mdc3.12958
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- Publication type:
- Article
X‐Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 109, doi. 10.1002/mdc3.12858
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- Publication type:
- Article
Is Pallido‐Pyramidal Syndrome Still a Useful Concept? Yes.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 25, doi. 10.1002/mdc3.12845
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- Publication type:
- Article
Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.
- Published in:
- 2018
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- Publication type:
- Case Study
SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 2, p. 149, doi. 10.1002/mdc3.12144
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
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- Neurological Sciences, 2023, v. 44, n. 5, p. 1795, doi. 10.1007/s10072-022-06546-2
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- 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
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- 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
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- 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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Hereditary spastic paraplegia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 883, doi. 10.1007/s10072-020-04981-7
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- 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
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- 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
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- 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
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- 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