Associated Papers
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.
Jimoh IJ et al.
Clinical Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
IgE type multiple myeloma exhibits hypermutated phenotype and tumor reactive T cells.
Kehl N et al.
Journal for Immunotherapy of Cancer, 2022
36252999 (PubMed )
Supplement: jitc-2022-005815supp004.xlsx › snvs
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A et al.
Journal of Neurology, 2020
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.
Valera ET et al.
Acta Neuropathologica, 2018
30143858 (PubMed )
Supplement: 401_2018_1898_MOESM2_ESM.xlsx › All
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G et al.
Brain : a Journal of Neurology, 2014
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S et al.
Brain : a Journal of Neurology, 2012
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
McDermott CJ et al.
Neurology, 2001
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