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Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Bioorganic & Medicinal Chemistry Letters|March 14, 2007
Identification of diamino chromone-2-carboxamides as MCHr1 antagonists with minimal hERG channel activityAndrew S Judd, Andrew J Souers, Dariusz Wodka, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Cancer Research|October 28, 2025
CFT1946 is an Orally Available Brain-Penetrant BRAFV600-Mutant Degrader that Overcomes BRAF Inhibitor ResistanceBridget T Kreger, Yanke Liang, Nicole M Reilly, et al.
Neurology|October 26, 2022
Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeRiccardo Ronco, Cecilia Perini, Riccardo Currò, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
JACC. Heart Failure|January 13, 2026
Early Diagnosis of ATTR-CM Using Carpal Tunnel Biopsy Examination: EDUCATE: A United Kingdom Prospective Multicenter StudyYousuf Razvi, Janet Gilbertson, Carlos Heras-Palou, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Pediatric Blood & Cancer|June 22, 2023
The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumorLiny John, Hannah Smith, Maran Ilanchezhian, et al.
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