Neurophysiological Characteristics of Allgrove (Triple A) Syndrome: Case Report and Literature Review 

• Dr. Daniel Weiman, with Dr. Hugh McMillan (investigator) as a co-author.

 

Methodology for clinical genotyping of CYP2D6 and CYP2C19

• Dr. Beatriz Carvalho Henriques, with Dr. Gerald Pfeffer (biobanking working group) as a co-author.

 

Laryngospasm in Amyotrophic Lateral Sclerosis

• Dr. Ryan Gotesman with Dr. Jodi Warman-Chardon (steering committee) as a co-author.

 

A new automated tool to quantify nucleoid distribution within mitochondrial networks

• Dr. Hema Ilamathi with Dr. Gerald Pfeffer (biobanking wg) as a co-author.

 

Pediatric Tracheostomy Tube Decannulation With or Without Polysomnography: A PRO-CON debate

• Dr. Lena Xiao with Dr. Reshma Amin (investigator) as a co-author.

 

Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric SMA patients

• Dr. Adrian Regensburger with Dr. Hanns Lochmüller (lead inv.) as a co-author

 

Automated Quantification of Subcellular Particles in Myogenic Progenitors

• Romina Filippelli with Dr. Natasha Chang (early-career working group) as a co-author

 

Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction

• Dr. Ruth Herbst with Dr. Hanns Lochmüller (lead investigator) as a co-author.

 

Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.

• Dr. Mehrafarin Ramezani, with Dr. Gerald Pfeffer (biobank working group) as a co-author.

 

Distinct patterns of progressive gray and white matter degeneration in amyotrophic lateral sclerosis

• Dr. Abdullah Ishaque, with Dr. Lawrence Korngut (investigator) as a co-author.

 

Outpatient Respiratory Management of Infants, Children, and Adolescents with Post-Prematurity Respiratory Disease: An Official American Thoracic Society Clinical Practice Guideline

• Dr. Ioana Cristea with Dr. Reshma Amin (investigator) as a co-author.

 

Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis

• Dr. Paulo José Lorenzoni with Dr. Hanns Lochmüller (lead investigator) as a co-author.

 

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

• Dr. Eugenio Mercuri with Dr. Maryam Oskoui (investigator) as a co-author.

 

Collagen VI regulates motor circuit plasticity and motor performance by cannabinoid modulation

• Dr. Daniel Lam with Dr. Hanns Lochmüller (lead investigator) as a co-author.