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Annals of neurology, ISSN 0364-5134, 2011, Volume 70, Issue 6, pp. 964 - 973
Journal Article
Nephrology, Dialysis, Transplantation, ISSN 0931-0509, 06/2015, Volume 30, Issue 6, pp. 952 - 957
BACKGROUND: Magnesium (Mg(2+)) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg(2+) levels <0.7 mmol/L may cause a... 
Hypercalciuria/genetics | Mutation/genetics | Humans | Male | Renal Tubular Transport, Inborn Errors/genetics | Sodium-Potassium-Exchanging ATPase/genetics | Homeostasis/genetics | Genes, Dominant | Pedigree | Magnesium/blood | Adult | Female | Nephrocalcinosis/genetics
Journal Article
Rheumatology (Oxford, England), ISSN 1462-0324, 2016, Volume 55, Issue 5, pp. 902 - 910
Journal Article
PLoS ONE, ISSN 1932-6203, 2012, Volume 7, Issue 11, p. e48983
Journal Article
Journal Article
Amyotrophic lateral sclerosis and frontotemporal degeneration, ISSN 2167-8421, 04/2013, Volume 14, Issue 3, pp. 224 - 227
Sporadic ALS is a multifactorial disease for which there are probably multiple genetic risk factors. An association with increased parental age might suggest... 
MATERNAL AGE | DEMENTIA | parental age | ALZHEIMERS-DISEASE | ALS | PATERNAL AGE | MOTOR-NEURON DISEASE | amyotrophic lateral sclerosis | maternal | paternal | BIRTH-ORDER
Journal Article
Rheumatology, ISSN 1462-0324, 05/2016, Volume 55, Issue 5, pp. 902 - 910
Objective. To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations... 
CECR1 | phenotype | STROKE | early-onset stroke | vasculitis | ADA2 | auto-inflammatory disease | VASCULOPATHY | livedo reticularis | genotype | ADENOSINE-DEAMINASE 2
Journal Article
Rheumatology (Oxford, England), ISSN 1462-0324, 05/2016, Volume 55, Issue 5, p. 902
Objective. To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations... 
CECR1 | Early-onset stroke | Phenotype | Vasculitis | Auto-inflammatory disease | Pharmacology (medical) | Rheumatology | Genotype | Multicenter Study | ADA2 | Livedo reticularis | Journal Article
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 06/2015, Volume 30, Issue 6, p. 952
Background. Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levels Methods. Here, two families with... 
kidney | RAT-KIDNEY | Research Support, Non-U.S. Gov't | FXYD2 | Na+-K+-ATPase | magnesium | distal convoluted tubule | RENAL MAGNESIUM LOSS | NA+,K+-ATPASE GAMMA-SUBUNIT | HYPOKALEMIA | Journal Article
Journal Article
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, ISSN 2167-8421, 04/2013, Volume 14, Issue 3, pp. 224 - 227
Journal Article
Journal Article
Circ Genom Precis Med, ISSN 2574-8300, 05/2019, Volume 12, Issue 5
Background Truncating titin variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy, found in ≤25% of familial cases. Moreover, TTNtv... 
titin | mutation | dilated | mortality | cardiomyopathy | natural history
Journal Article