Fawn Leigh
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View article: Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis
Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis Open
These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
View article: Mutations in the <i>SPTLC1</i> gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
Mutations in the <i>SPTLC1</i> gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation Open
Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of childhood motor disorder with a heterogeneous clinical presentation. The underlying causes of this condition are poorly understood, hindering the development of effective thera…
View article: Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy
Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy Open
Duchenne muscular dystrophy is the most common form of childhood muscular dystrophy. A mutation in the DMD gene disrupts dystrophin (protein) production, causing damage to muscle integrity, weakness, loss of ambulation, and cardiopulmonary…
View article: Developing multidisciplinary clinics for neuromuscular care and research
Developing multidisciplinary clinics for neuromuscular care and research Open
Multidisciplinary care is considered the standard of care for both adult and pediatric neuromuscular disorders and has been associated with improved quality of life, resource utilization, and health outcomes. Multidisciplinary care is deli…
View article: Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1
Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1 Open
These recommended sleep and pulmonary evaluations are intended to provide researchers with a standardized set of clinically meaningful endpoints for response evaluation in trials of NF1-related airway PNs.
View article: Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials
Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials Open
The REiNS Collaboration currently recommends these PRO measures to assess the domains of pain and physical functioning for NF clinical trials; however, further research is needed to evaluate their use in individuals with NF. A final consen…
View article: Neurocognitive outcomes in neurofibromatosis clinical trials
Neurocognitive outcomes in neurofibromatosis clinical trials Open
Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults with this disease. However, there is little agreement regarding measures to use as cognitiv…
View article: Current status and recommendations for biomarkers and biobanking in neurofibromatosis
Current status and recommendations for biomarkers and biobanking in neurofibromatosis Open
These recommendations are intended to provide clinicians and researchers with a common set of guidelines to collect and store biospecimens and for establishment of biobanks for NF1, NF2, and SWN.
View article: Current whole-body MRI applications in the neurofibromatoses
Current whole-body MRI applications in the neurofibromatoses Open
WB-MRI is feasible for identifying tumors using both 1.5T and 3.0T systems. The STIR sequence is a core sequence. Additional investigation is needed to define the optimal approach for volumetric analysis, the reproducibility of WB-MRI in N…