Latest Articles

Subject

Correction
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
October 07, 2016
Editorial
Reassessing carrier status for dystrophinopathies
Tara M. Newcomb, Kevin M. Flanigan

October 05, 2016
Clinical/Scientific Notes
Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess
Lauren Bogue, Sindhu Ramchandren

October 05, 2016
Article
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
Julie van der Zee, Peter Mariën, Roeland Crols, et al.

September 16, 2016
Clinical/Scientific Notes
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
Thanes Termglinchan, Seito Hisamatsu, Junko Ohmori, et al.

September 14, 2016
Article
Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk
Brooke Rhead, Maria Bäärnhielm, Milena Gianfrancesco, et al.

September 13, 2016
Clinical/Scientific Notes
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability
Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, et al.

September 13, 2016
Article
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia
Andrew G. Engel, Duygu Selcen, Xin-Ming Shen, et al.

September 08, 2016
Clinical/Scientific Notes
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis
Victoria Mallett, Jay P. Ross, Roy N. Alcalay, et al.

September 08, 2016
Article
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
Jennifer Hirst, Marianna Madeo, Katrien Smets, et al.

August 25, 2016

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