NEFH, neurofilament heavy, 4744

N. diseases: 120; N. variants: 4
Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.040 GeneticVariation disease BEFREE To investigate whether the L/S genotypes of the NEFH gene are associated with MND, we studied the frequency of L and S alleles in sporadic MND patients and a control population from Moscow. 14722583 2004
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.040 Biomarker disease LHGDN To investigate whether the L/S genotypes of the NEFH gene are associated with MND, we studied the frequency of L and S alleles in sporadic MND patients and a control population from Moscow. 14722583 2004
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.040 Biomarker disease BEFREE Previous studies demonstrated that transgenic mice overexpressing human neurofilament heavy (hNF-H) protein develop a progressive motor neuron disease characterized by the perikaryal accumulations of neurofilaments resembling those found in amyotrophic lateral sclerosis (ALS). 10515233 1999
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.040 AlteredExpression disease BEFREE Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase. 9689131 1998
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.040 Biomarker disease BEFREE The relevance of the NF-H transgenics as a model of ALS is discussed in light of our current knowledge of motor neuron disease. 7566355 1995