Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

Merrill D. Benson, Márcia Waddington‐Cruz, John L. Berk, +32

New England Journal of Medicine

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

James F. Howard, Kimiaki Utsugisawa, Michael Benatar, +614

The Lancet Neurology

Multicentre StudyPharmacologyMedicineMyasthenia GravisNeuromuscular Blockade +1

Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial

Ivo N. van Schaik, Vera Bril, Nan van Geloven, +147

The Lancet Neurology

Subcutaneous ImmunoglobulinAutoimmune DiseaseChronic InflammatoryMaintenance TreatmentImmunotherapy +10

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial

Jesús S. Mora, Angela Genge, Adriano Chiò, +21

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Linda L. Bachinski, Bjarne Udd, G. Meola, +20

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsExpansion Mutation +5

<i>SPG7</i> mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

Elena Sánchez-Ferrero, Eliécer Coto, Christian Beetz, +10

Clinical Genetics

Spg7 MutationGeneticsGenetic EpidemiologySpg7 GenePathology +15

Long‐term course and mutational spectrum of <i>spatacsin</i>‐linked spastic paraplegia

Ute Hehr, Peter Bauer, Beate Winner, +21

Annals of Neurology

Neurological DisorderGeneticsMotor DevelopmentGenetic EpidemiologyCerebral Palsy +20

MRI findings in Mobius syndrome: Correlation with clinical features

Salvador Pedraza, Josep Gámez, A. Rovira, +4

Neurology

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

Ivon Cuscó, M. J. Barceló, Ricard Rojas‐García, +7

Journal of Neurology

Smn2 Copy NumberGenetic DisorderGeneticsGenetic EpidemiologyDegenerative Disease +4

TAR DNA-Binding Protein 43 Accumulation in Protein Aggregate Myopathies

Montse Olivé, Anna Janué, Dolores Moreno, +3

Journal of Neuropathology & Experimental Neurology

Protein AssemblyProtein Aggregate MyopathiesMolecular BiologyPathologyDisease Gene Identification +14