Publications by authors named "Yolanda Holler-Managan"

Article Synopsis
  • The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
  • Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
  • Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
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Objective: To provide evidence-based recommendations for the acute symptomatic treatment of children and adolescents with migraine.

Methods: We performed a systematic review of the literature and rated risk of bias of included studies according to the American Academy of Neurology classification of evidence criteria. A multidisciplinary panel developed practice recommendations, integrating findings from the systematic review and following an Institute of Medicine-compliant process to ensure transparency and patient engagement.

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Objective: To provide updated evidence-based recommendations for migraine prevention using pharmacologic treatment with or without cognitive behavioral therapy in the pediatric population.

Methods: The authors systematically reviewed literature from January 2003 to August 2017 and developed practice recommendations using the American Academy of Neurology 2011 process, as amended.

Results: Fifteen class I-III studies on migraine prevention in children in adolescents met inclusion criteria.

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The glutamate pyruvate transaminase 2 (GPT2) gene produces a nuclear-encoded mitochondrial enzyme that catalyzes the reversible transfer of an amino group from glutamate to pyruvate, generating alanine and alpha-ketoglutarate. Recessive mutations in GPT2 have been recently identified in a new syndrome involving intellectual and developmental disability (IDD), postnatal microcephaly, and spastic paraplegia. We have identified additional families with recessive GPT2 mutations and expanded the phenotype to include small stature.

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Objective: To update the 2002 American Academy of Neurology (AAN) guideline regarding immunization and multiple sclerosis (MS).

Methods: The panel performed a systematic review and classified articles using the AAN system. Recommendations were based on evidence, related evidence, principles of care, and inferences according to the AAN 2011 process manual, as amended.

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Objective: To provide evidence-based recommendations for the acute symptomatic treatment of children and adolescents with migraine.

Methods: We performed a systematic review of the literature and rated risk of bias of included studies according to the American Academy of Neurology classification of evidence criteria. A multidisciplinary panel developed practice recommendations, integrating findings from the systematic review and following an Institute of Medicine-compliant process to ensure transparency and patient engagement.

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Objective: To provide updated evidence-based recommendations for migraine prevention using pharmacologic treatment with or without cognitive behavioral therapy in the pediatric population.

Methods: The authors systematically reviewed literature from January 2003 to August 2017 and developed practice recommendations using the American Academy of Neurology 2011 process, as amended.

Results: Fifteen Class I-III studies on migraine prevention in children and adolescents met inclusion criteria.

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Objective: To systematically evaluate the efficacy of treatments for tics and the risks associated with their use.

Methods: This project followed the methodologies outlined in the 2011 edition of the American Academy of Neurology's guideline development process manual. We included systematic reviews and randomized controlled trials on the treatment of tics that included at least 20 participants (10 participants if a crossover trial), except for neurostimulation trials, for which no minimum sample size was required.

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Objective: To make recommendations on the assessment and management of tics in people with Tourette syndrome and chronic tic disorders.

Methods: A multidisciplinary panel consisting of 9 physicians, 2 psychologists, and 2 patient representatives developed practice recommendations, integrating findings from a systematic review and following an Institute of Medicine-compliant process to ensure transparency and patient engagement. Recommendations were supported by structured rationales, integrating evidence from the systematic review, related evidence, principles of care, and inferences from evidence.

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