Darius J. Adams

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Anna‐Leigh Brown, Oscar G. Wilkins, Matthew J. Keuss et al. · Nature · 2022 · 514 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

Meena Upadhyaya, Susan Huson, D. M. Davies et al. · The American Journal of Human Genetics · 2006 · 361 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Oliver H. Tam, Nikolay V. Rozhkov, Regina Shaw et al. · Cell Reports · 2019 · 333 citations · Full text

Life Sciences, Neurology, Neuroscience +16

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini et al. · Pediatric Neurology · 2009 · 187 citations

Medicine, Pediatrics, Preventive Medicine +16