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Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.Neurocritical Care|November 30, 2021
Utilization of Brain Tissue Oxygenation Monitoring and Association with Mortality Following Severe Traumatic Brain InjuryJordan M Komisarow, Camilo Toro, Jonathan Curley, et al.Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.Neurology. Genetics|June 13, 2018
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj M Shanbhag, Michael D Geschwind, John J DiGiovanna, et al.Journal of Immunology (Baltimore, Md. : 1950)|February 11, 2014
Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseasesSungpil Han, Yen Chih Lin, Tianxia Wu, et al.American Journal of Medical Genetics. Part A|March 10, 2020
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung diseaseElizabeth A Burke, Kyle E Reichard, Lynne A Wolfe, et al.Neurology|February 15, 2013
Octanoic acid in alcohol-responsive essential tremor: a randomized controlled studyDietrich Haubenberger, Gayle McCrossin, Codrin Lungu, et al.Neurology. Genetics|March 8, 2019
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophyBruce Nmezi, Elisa Giorgio, Raili Raininko, et al.Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.American Journal of Medical Genetics. Part A|September 29, 2020
Diagnosis of Chediak Higashi disease in a 67-year old womanDavid S Yarnell, Joseph C Roney, Cláudia Teixeira, et al.Pageof 16