… in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) … -
… , K White, D Pauleikhoff, A Gehrig, L Passmore, A … - Hum Genet, 2000 - retinascience.de
... In all these probands peripherin/RDS was excluded as the disease-causing gene prior
to the mutation analysis in the VMD2 gene.28 Similar to our findings in ...
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus … -
… Bartoloni, JL Blouin, Y Pan, C Gehrig, AK Maiti, N … - Proceedings of the National Academy of Sciences, 2002 - National Acad Sciences
... Louis Blouin * , Yanzhen Pan , Corinne Gehrig * , Amit K ... transmembrane conductance
regulator (CFTR) gene (16) was ... The respiratory disease had an earlier age of ...
Positional cloning of the gene associated with X-linked juvenile retinoschisis -
CG Sauer, A Gehrig, R Warneke-Wittstock, A … - Nature Genetics, 1997 - nature.com
... Christian G. Sauer 1, * , Andrea Gehrig 1, * , Regina ... missense mutations segregating
with the disease phenotype in ... evidence that the XLRS1 gene, when mutated ...
Insights into Lou Gehrig's Disease from the Structure and Instability of the A4V Mutant of Human Cu, … -
RMF Cardoso, MM Thayer, M DiDonato, TP Lo, CK … - Journal of Molecular Biology, 2002 - Elsevier
... lateral sclerosis (FALS), also called Lou Gehrig's disease.[6 and ... increase in abundance
as the disease progresses. ... at codon 126 of the HSOD gene demonstrated co ...
Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the … -
TJ Lyons, H Liu, JJ Goto, A Nersissian, JA Roe, JA … - Proceedings of the National Academy of Sciences of the …, 1996 - pubmedcentral.nih.gov
... lateral sclerosis (ALS; also known as Lou Gehrig's disease). ... same gain of function
that causes the disease. ... in Cu/Zn superoxide dismutase gene are associated ...
From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS -
DW Cleveland, JD Rothstein - Nat Rev Neurosci, 2001 - lifesci.sussex.ac.uk
... FROM CHARCOT TO LOU GEHRIG: ... of each of these factors in sporadic and familial disease,
and dis- cuss the discovery of a second gene ? a putative GUANINE ...
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) -
YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J … - The American Journal of Human Genetics, 2004 - Elsevier
... Amyotrophic lateral sclerosis (ALS), also known as ?Lou Gehrig?s disease,? denotes
a ... in the Cu/Zn superoxide dismutase (SOD1) gene on chromosome 21q21 ...
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral … -
DR Rosen, T Siddique, D Patterson, DA Figlewicz, P … - Nature, 1993 - Mass Med Soc
... Amyotrophic lateral sclerosis (ALS) -- the disease affecting Lou Gehrig and Stephen ...
research team reports finding mutations of a gene on chromosome ...
Parkinson disease: etiology, pathogenesis and future of gene therapy -
BS Shastry - Neuroscience Research, 2001 - Elsevier
... lateral sclerosis (also called Lou Gehrig's disease) is associated ... may be responsible
for disease but maternal ... in the altered state (because of gene a mutation ...
The molecular basis of copper-transport diseases -
JFB Mercer - Trends in Molecular Medicine, 2001 - Elsevier
... 3. LM Klevay, Cardiovascular disease from copper deficiency ? a history. ... 5. K. Yoshida
et al., A mutation in the ceruloplasmin gene is associated with ...
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