A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition

Anne Couturier‐Tarrade, Coralie Fassier, Sabrina Courageot, +11

Human Molecular Genetics

Microtubule CompositionCytoskeletonMechanotransductionCellular NeurobiologyCellular Physiology +17

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

Scott R. Plotkin, Jaishri O. Blakeley, D. Gareth Evans, +13

American Journal of Medical Genetics Part A

Schwannomatosis UpdateNeurological DisorderPathologyDisease Gene IdentificationInternational Schwannomatosis Workshop +17

Deletion of Murine Smn Exon 7 Directed to Liver Leads to Severe Defect of Liver Development Associated with Iron Overload

Jérémie Vitte, Bénédicte Davoult, Natacha Roblot, +8

American Journal Of Pathology

HepatologyHeme HomeostasisIron MetabolismLiver PhysiologyIron Overload +11

Refined Characterization of the Expression and Stability of the SMN Gene Products

Jérémie Vitte, Coralie Fassier, Francesco Danilo Tiziano, +7

American Journal Of Pathology

Protein ExpressionNatural SciencesGene StructureMolecular BiologyGene Characterization +8

Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development

Jérémie Vitte, Fuying Gao, Giovanni Coppola, +2

Nature Communications

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Irene Paganini, Vivian Y. Chang, Gabriele Lorenzo Capone, +9

European Journal of Human Genetics

mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma

Marco Giovannini, N.-X. Bonne, Jérémie Vitte, +8

Neuro-Oncology

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1

Sara Isakson, Anthony E. Rizzardi, Alexander Coutts, +19

Communications Biology

Leucine-Rich Repeat Kinase 2 Is Associated With the Endoplasmic Reticulum in Dopaminergic Neurons and Accumulates in the Core of Lewy Bodies in Parkinson Disease

Jérémie Vitte, Sabine Traver, A. Maues de Paula, +5

Journal of Neuropathology & Experimental Neurology

NeurogenomicsEr LocalizationNeurochemical BiomarkersSynaptic SignalingSocial Sciences +22

Therapeutic Potential of HSP90 Inhibition for Neurofibromatosis Type 2

Karo Tanaka, Ascia Eskin, Fabrice Chareyre, +10

Clinical Cancer Research