Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.
Sachithanandan S et al.
Annals of Indian Academy of Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.
Spengler FAM et al.
Plos One, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
Ferreira T et al.
Journal of Neurology, 2024
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M et al.
Movement Disorders Clinical Practice, 2022
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.
Wali G et al.
Scientific Reports, 2021
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells.
Wali G et al.
Frontiers in Neuroscience, 2020
Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.
Milenkovic I et al.
Annals of Clinical and Translational Neurology, 2019
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J et al.
Genome Medicine, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
Expanded phenotype in a patient with spastic paraplegia 7.
Gass J et al.
Clinical Case Reports, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL et al.
European Journal of Neurology, 2016
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Wedding IM et al.
Plos One, 2014
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Kumar KR et al.
Journal of Neurology, 2013
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H et al.
Internal Medicine (tokyo, Japan), 2013
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL et al.
Brain : a Journal of Neurology, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S et al.
Brain : a Journal of Neurology, 2012
[Isolated spastic paraparesis disclosing Krabbe disease in adult age].
Bataillard M et al.
Revue Neurologique, 1997
[Clinical and genetic study of a family with hereditary essential myoclonus].
Gualandri V et al.
Revue Neurologique, 1987
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.
Bhattacharjee S et al.
Neurology India, 0