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British Journal of Haematology|May 23, 2023
Paraneoplastic pemphigus uncovers distinct clinical and biological phenotypes of western unicentric Castleman diseaseYannick Dieudonné, Marc-Antoine Silvestrini, Antoine Dossier, et al.
Clinical Genetics|July 30, 2022
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM proteinMinna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
International Journal of Molecular Sciences|July 27, 2022
Proteomic Biomarkers of the Apnea Hypopnea Index and Obstructive Sleep Apnea: Insights into the Pathophysiology of Presence, Severity, and Treatment ResponseKatie L J Cederberg, Umaer Hanif, Vicente Peris Sempere, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal DyskinesiaCyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Sleep|June 7, 2022
The genetic etiology of periodic limb movement in sleepJacob L Edelson, Logan D Schneider, David Amar, et al.
NEJM AI|April 9, 2026
Brain Health from Sleep EEG: A Multicohort, Deep Learning Biomarker for Cognition, Disease, and MortalityWolfgang Ganglberger, Haoqi Sun, Niels Turley, et al.
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Journal of Internal Medicine|October 27, 2020
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56A Legrand, C Pujol, C M Durand, et al.
Brain : a Journal of Neurology|March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxiaRebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
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