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Plos One|August 5, 2014
IGF2 promotes growth of adrenocortical carcinoma cells, but its overexpression does not modify phenotypic and molecular features of adrenocortical carcinomaMarine Guillaud-Bataille, Bruno Ragazzon, Aurélien de Reyniès, et al.
Human Genetics|October 4, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesisGuillaume Cogan, Maha S Zaki, Mahmoud Issa, et al.
Brain Communications|November 3, 2025
Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomographyRaphaël Miroglio, Armand Hocquel, Jean-Marie Ravel, et al.
Neuro-Oncology|November 30, 2017
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosisLéa Guerrini-Rousseau, Christelle Dufour, Pascale Varlet, et al.
The Journal of Clinical Endocrinology and Metabolism|November 5, 2010
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotypeRossella Libé, Anelia Horvath, Delphine Vezzosi, et al.
Brain : a Journal of Neurology|January 4, 2022
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegiaJean-Loup Méreaux, Guillaume Banneau, Mélanie Papin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
European Journal of Neurology|December 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variantsManon Degoutin, Chloé Angelini, Claire Bar, et al.
European Journal of Cancer (Oxford, England : 1990)|May 11, 2021
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinomaLucia Carril-Ajuria, Emeline Colomba, Luigi Cerbone, et al.
Thyroid : Official Journal of the American Thyroid Association|September 27, 2017
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as ModifiersMaylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille, et al.
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