Bibliotecas PUC-SP - Busca Integrada

Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families

af Nichols, W, Pankratz, N, Uniacke, S, Pauciulo, M, Halter, C, Rudolph, A, Conneally, P, Foroud, T
Udgivet 2002

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

af Pankratz, N, Kissell, D K., Pauciulo, M W., Halter, C A., Rudolph, A, Pfeiffer, R F., Marder, K S., Foroud, T, Nichols, W C.
Udgivet 2009

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

af Koehler, R, Grunig, E, Pauciulo, M, Hoeper, M, Olschewski, H, Wilkens, H, Halank, M, Winkler, J, Ewert, R, Bremer, H, Kreuscher, S, Janssen, B, Nichols, W
Udgivet 2004

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

af Nichols, W C., Pankratz, N, Marek, D K., Pauciulo, M W., Elsaesser, V E., Halter, C A., Rudolph, A, Wojcieszek, J, Pfeiffer, R F., Foroud, T
Udgivet 2009

Variation in GIGYF2 is not associated with Parkinson disease

af Nichols, W C., Kissell, D K., Pankratz, N, Pauciulo, M W., Elsaesser, V E., Clark, K A., Halter, C A., Rudolph, A, Wojcieszek, J, Pfeiffer, R F., Foroud, T
Udgivet 2009

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

af Thomson, J., Machado, R., Pauciulo, M., Morgan, N., Humbert, M., Elliott, G., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J, Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J., Trembath, R., Nichols, W.
Udgivet 2000