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The Journal of Clinical Investigation|February 23, 2012
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humansClaire R Hughes, Leonardo Guasti, Eirini Meimaridou, et al.
Molecular and Cellular Endocrinology|January 3, 2013
Familial glucocorticoid deficiency: New genes and mechanismsEirini Meimaridou, Claire R Hughes, Julia Kowalczyk, et al.
Clinical Endocrinology|January 17, 2007
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasiaLin Lin, Peter C Hindmarsh, Louise A Metherell, et al.
Human Brain Mapping|January 4, 2008
Investigation of white matter pathology in ALS and PLS using tract-based spatial statisticsOlga Ciccarelli, Timothy E Behrens, Heidi Johansen-Berg, et al.
Neuroepidemiology|November 29, 2008
Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population studyKirsten M Scott, Kumar Abhinav, Biba R Stanton, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 11, 2024
Dyspnea (breathlessness) in amyotrophic lateral sclerosis/motor neuron disease: prevalence, progression, severity, and correlatesCarolyn A Young, Amina Chaouch, Christopher J Mcdermott, et al.
Clinical Endocrinology|January 28, 2009
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiencyLi F Chan, Louise A Metherell, Heiko Krude, et al.
The Lancet. Neurology|February 2, 2015
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosisJonathan D Rohrer, Adrian M Isaacs, Sarah Mizielinska, et al.
Endocrinology|December 29, 2007
The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell lineSadani N Cooray, Isabel Almiro Do Vale, Kit-Yi Leung, et al.
Clinical Endocrinology|May 1, 2007
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromesCatherine E Keegan, Janna E Hutz, Andrea S Krause, et al.
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