Charlotte J. Sumner

Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

Should thrombolysis be contraindicated in patients with cerebral arteriovenous malformations?

Jaw drop in Kennedy's disease.

Recurrent myelopathy after HAART in a patient with spinal mycobacterial infection.

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism.

The role of histone acetylation in SMN gene expression.

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

A novel cell immunoassay to measure survival of motor neurons protein in blood cells.

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

Therapeutics development for spinal muscular atrophy.

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.

Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.

Molecular mechanisms of spinal muscular atrophy.

Targeting splicing in spinal muscular atrophy.

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition.

Regulation of SMN protein stability.

Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice.

Emerging treatment options for spinal muscular atrophy.

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice.

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

The genetics of spinal muscular atrophies.

Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy.

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.

Progress and promise: the current status of spinal muscular atrophy therapeutics.

Sciatic nerve tumor and tumor-like lesions - uncommon pathologies.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.

Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.

Spinal muscular atrophy, John Griffin, and mentorship.

The DcpS inhibitor RG3039 improves motor function in SMA mice.

Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.

SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs.

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

A TRPV channel in Drosophila motor neurons regulates presynaptic resting Ca2+ levels, synapse growth, and synaptic transmission.

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.

Astrocytes influence the severity of spinal muscular atrophy.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Genetics and genomic medicine in Mali: challenges and future perspectives.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Whole-body MR neurography: Prospective feasibility study in polyneuropathy and Charcot-Marie-Tooth disease.

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.