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References from Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex. Local targets link to admitted publications; unresolved targets remain external evidence.
Risdiplam in type 1 spinal muscular atrophy
10.1056/nejmoa2009965 · 2021 · External reference
Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
10.1016/j.nmd.2018.01.003 · 2018 · External reference
Systematic review of presymptomatic treatment for spinal muscular atrophy
10.3390/ijns10030056 · 2024 · External reference
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
10.1186/s13023-018-0870-y · 2018 · External reference
Ten-year follow-up of monozygotic twin sisters with TSC-LAM: a rare case report
10.1016/j.rmcr.2026.102436 · 2026 · External reference
Risdiplam in presymptomatic spinal muscular atrophy
10.1056/nejmoa2410120 · 2025 · External reference
Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review
10.1007/s10072-024-07503-x · 2024 · External reference
Epigenetic Insights into Tuberous Sclerosis Complex, Von Hippel-Lindau Syndrome, and Ataxia-Telangiectasia
10.3390/epigenomes9020020 · 2025 · External reference
A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
10.1016/j.nmd.2008.02.001 · 2008 · External reference
Spinal muscular atrophy
10.1016/j.ncl.2015.07.004 · 2015 · External reference
Phenotypic variability and mTOR pathway gene aberrations in familial tuberous sclerosis
10.1055/s-0037-1603349 · 2017 · External reference
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
10.1073/pnas.96.11.6307 · 1999 · External reference
Perfect match: mTOR inhibitors and Tuberous sclerosis complex
10.1186/s13023-022-02266-0 · 2022 · External reference
Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: a case report
10.1097/md.0000000000039076 · 2024 · External reference
Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of Tuberous sclerosis complex
10.1093/neuonc/nov152 · 2015 · External reference
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
10.1016/s1474-4422(22)00339-8 · 2022 · External reference
Severe brain involvement in 5q spinal muscular atrophy type 0
10.1002/ana.25549 · 2019 · External reference
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
10.1016/s1474-4422(21)00367-7 · 2022 · External reference
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
10.1093/hmg/8.7.1177 · 1999 · External reference
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international Tuberous sclerosis complex consensus conference
10.1016/j.pediatrneurol.2013.08.001 · 2013 · External reference
Updated international Tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
10.1016/j.pediatrneurol.2021.07.011 · 2021 · External reference
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy
10.1016/j.ejpn.2010.04.003 · 2011 · External reference
Paradigm shift in the treatment of tuberous sclerosis: effectiveness of everolimus
10.1016/j.phrs.2023.106884 · 2023 · External reference
Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches
10.3389/fncel.2023.1307636 · 2024 · External reference
Safety of risdiplam in Japanese patients with spinal muscular atrophy: a 12-Month interim analysis of a postmarketing surveillance study
10.1007/s40120-025-00795-x · 2025 · External reference
Spinal muscular atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
10.1186/s40478-021-01223-5 · 2021 · External reference
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
10.1186/s13023-017-0671-8 · 2017 · External reference
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome
10.1016/j.ejpn.2006.12.007 · 2007 · External reference
A novel TSC2 missense variant associated with a variable phenotype of Tuberous sclerosis complex: case report of a Chinese family
10.1186/s12881-018-0611-z · 2018 · External reference
Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next
10.1146/annurev-genom-102319-103602 · 2020 · External reference
TOR signaling in growth and metabolism
10.1016/j.cell.2006.01.016 · 2006 · External reference
Case report: whole-exome sequencing with MLPA revealed variants in two genes in a patient with combined manifestations of spinal muscular atrophy and Duchenne muscular dystrophy
10.3389/fgene.2021.605611 · 2021 · External reference
Prenatal phenotypical discrepancy in monozygotic twins with Tuberous sclerosis complex
10.1097/fm9.0000000000000109 · 2022 · External reference