SMN gene deletions in adult-onset spinal muscular atrophy

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Lancet (London, England)·2026

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

Lancet (London, England)·2026

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Lancet (London, England)·2026

Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

Lancet (London, England)·2026

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.

Molecular genetics & genomic medicine·2026

Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation.

EMBO reports·2026

Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.

Communications medicine·2026

What can narcolepsy teach us about hypocretin and dementia?

Ageing research reviews·2026

Estradiol Attenuates Cardiac Apoptosis and Modulates Cardiovascular Remodeling in Ovariectomized Female Rats with 6-Hydroxydopamine-Induced Parkinsonism.

Physiology & behavior·2026

From patient cells to patient therapy: Twenty years of iPSC-based translation in neurodegenerative disease.

Cell reports. Medicine·2026

Related Experiment Videos

SMN gene deletions in adult-onset spinal muscular atrophy

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.

Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation.

Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.

What can narcolepsy teach us about hypocretin and dementia?

Estradiol Attenuates Cardiac Apoptosis and Modulates Cardiovascular Remodeling in Ovariectomized Female Rats with 6-Hydroxydopamine-Induced Parkinsonism.

From patient cells to patient therapy: Twenty years of iPSC-based translation in neurodegenerative disease.

Related Experiment Videos

SMN gene deletions in adult-onset spinal muscular atrophy

Related Concept Videos

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