A long nuclear‐retained non‐coding RNA regulates synaptogenesis by modulating gene expression

Delphine Bernard, Kannanganattu V. Prasanth, Vidisha Tripathi, +10

The EMBO Journal

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang, +3

Molecular Genetics and Metabolism

UrologyMedicineInherited Metabolic DiseaseDiagnosisPathology +3

MD1003 (high-dose biotin) for the treatment of progressive multiple sclerosis: A randomised, double-blind, placebo-controlled study

Ayman Tourbah, Christine Lebrun‐Frénay, Gilles Edan, +14

Multiple Sclerosis Journal

Recommendations on the diagnosis and management of Niemann-Pick disease type C

J. E. Wraith, Matthias R. Baumgartner, Bruno Bembi, +7

Molecular Genetics and Metabolism

UrologyMedicineInherited Metabolic DiseaseDiagnosisPathology +2

High doses of biotin in chronic progressive multiple sclerosis: A pilot study

Frédéric Sedel, Caroline Papeix, Agnès Bellanger, +6

Multiple Sclerosis and Related Disorders

Doxycycline in Creutzfeldt-Jakob disease: a phase 2, randomised, double-blind, placebo-controlled trial

Gabriella Marcon, Alain Mallet, Mauro Tettamanti, +32

The Lancet Neurology

Creutzfeldt-jakob DiseaseMedicinePlacebo-controlled TrialNeurologyPhase 2 +2

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Christel Depienne, Marianna Bugiani, Céline Dupuits, +21

The Lancet Neurology

Neurobiology Of DiseaseNeurophysiologyNeuroanatomyWhite MatterCerebrospinal Fluid +6

FXTAS

Emmanuelle Apartis, Anne Blancher, Wassilios G. Meissner, +30

Neurology

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, +21

Annals of Neurology

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, +22

Orphanet Journal of Rare Diseases