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Pediatric Neurology|August 24, 2024
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental DisorderMaria Carla Borroto, Heena Patel, Siddharth Srivastava, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|April 24, 2024
Comparative Study of Paraneoplastic and Nonparaneoplastic Autoimmune Encephalitis With GABA<sub>B</sub>R AntibodiesFlorian Lamblin, Jeroen Kerstens, Sergio Muñiz-Castrillo, et al.
Clinical Genetics|February 29, 2024
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndromeAnna Gerasimenko, Cyril Mignot, Olivier Naggara, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
Brain : a Journal of Neurology|July 12, 2025
Brain atrophy patterns in anti-IgLON5 diseaseSelina M Yogeshwar, Frederik Bartels, Thomas Grüter, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
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