January 2022 Newsletter

The January 2022 issue of the NMD4C newsletter is now available! Read about our plans for 2022, the recipients of the NMD4C and MDC postdoctoral fellowship funding, and read the two recent early-career member blogs. Plus job opportunities, events, new research, member spotlights and more!

New Research from NMD4C Participants

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.

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