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List of works by Megan A Waldrop

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.

scientific article published on 4 February 2017

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 01 November 2019

Current Treatment Options in Neurology-SMA Therapeutics

scientific article published on 29 April 2019

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

scientific article published on 21 January 2019

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

scientific article published on 12 December 2019

In-frame de novo mutation in in two patients with muscular atrophy and arthrogryposis

scientific article published on 01 October 2018

Intranasal delivery of mouse [D‐Leu‐4]‐OB3, a synthetic peptide amide with leptin‐like activity, improves energy balance, glycaemic control, insulin sensitivity and bone formation in leptin‐resistant C57BLK/6‐m db/db mice ⬇️

scientific article published on October 1, 2010

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

scientific article published on 23 November 2017

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype

scientific article published on 01 May 2018

Overview of Gene Therapy in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

scientific article published on 04 September 2020

The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy

scientific article published on 01 April 2020

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

scientific article published on 25 November 2019

Update in Duchenne and Becker muscular dystrophy

scientific article published on 01 October 2019

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

scientific article published on 03 June 2019

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