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Diego Cadavid

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Articles 79
Citations 1874
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Recent Articles
1.
Tawil R, Wagner K, Hamel J, Leung D, Statland J, Wang L, et al.
Lancet Neurol . 2024 Apr; 23(5):477-486. PMID: 38631764
Background: Facioscapulohumeral muscular dystrophy is a hereditary progressive myopathy caused by aberrant expression of the transcription factor DUX4 in skeletal muscle. No approved disease-modifying treatments are available for this disorder....
2.
Jalnapurkar I, Frazier J, Roth M, Cochran D, Foley A, Merk T, et al.
J Neurodev Disord . 2022 Dec; 14(1):57. PMID: 36494616
Background: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused...
3.
Mellion M, Widholm P, Karlsson M, Ahlgren A, Tawil R, Wagner K, et al.
Neurology . 2022 Jun; 99(9):e877-e889. PMID: 35750498
Background And Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a...
4.
Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner K, et al.
Muscle Nerve . 2022 May; 66(2):183-192. PMID: 35585766
Introduction/aims: Functional performance tests are the gold standard to assess disease progression and treatment effects in neuromuscular disorders. These tests can be confounded by motivation, pain, fatigue, and learning effects,...
5.
Shaffer R, Thurman A, Ronco L, Cadavid D, Raines S, Kim S
J Neurodev Disord . 2022 Jan; 14(1):4. PMID: 35034602
Background: Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Appropriate outcome measures for FXS have been...
6.
Roth M, Ronco L, Cadavid D, Durbin-Johnson B, Hagerman R, Tassone F
Diagnostics (Basel) . 2021 Oct; 11(10). PMID: 34679478
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion in the 5' untranslated...
7.
Mellion M, Ronco L, Berends C, Pagan L, Brooks S, van Esdonk M, et al.
Br J Clin Pharmacol . 2021 May; 87(12):4658-4669. PMID: 33931884
Aims: Evaluate safety, tolerability, pharmacokinetics (PK) and target engagement (TE) of losmapimod in blood and muscle in facioscapulohumeral dystrophy (FSHD). Methods: This study included Part A: 10 healthy volunteers randomized...
8.
DeBevits 4th J, Munbodh R, Bageac D, Wu R, DiCamillo P, Hu C, et al.
Invest Radiol . 2020 Sep; 55(10):629-635. PMID: 32898355
Objectives: Gadolinium deposition is widely believed to occur, but questions regarding accumulation pattern and permanence remain. We conducted a retrospective study of intracranial signal changes on monthly triple-dose contrast-enhanced magnetic...
9.
Rojas L, Valentine E, Accorsi A, Maglio J, Shen N, Robertson A, et al.
J Pharmacol Exp Ther . 2020 Jun; 374(3):489-498. PMID: 32576599
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the loss of repression at the locus leading to aberrant double homeobox 4 (DUX4) expression in skeletal muscle. Activation of this early embryonic...
10.
Farley B, Morozova E, Dion J, Wang B, Harvey B, Gianni D, et al.
Mol Cell Neurosci . 2019 Jul; 99:103393. PMID: 31356882
Enhancing remyelination is a key therapeutic strategy for demyelinating diseases such as multiple sclerosis. To achieve this goal, a central challenge is being able to quantitatively and longitudinally track functional...