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

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Alpha galactosidase A activity in Parkinson's disease von Alcalay, R.N., Wolf, P., Levy, O.A., Kang, U.J., Waters, C., Fahn, S., Ford, B., Kuo, S.H., Vanegas, N., Shah, H., Liong, C., Narayan, S., Pauciulo, M.W., Nichols, W.C., Gan-Or, Z., Rouleau, G.A., Chung, W.K., Oliva, P., Keutzer, J., Marder, K., Zhang, X.K.

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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease von HAUGARVOLL, K, RADEMAKERS, R, GUIDI, M, RIBOLDAZZI, G, BROWN, L, WALTER, U, BENECKE, R, BERG, D, GASSER, T, THEUNS, J, PALS, P, CRAS, P, KACHERGUS, J. M, DE DEYN, P. Paul, ENGELBORGHS, S, PICKUT, B, UITTI, R. J, FOROUD, T, NICHOLS, W. C, HAGENAH, J, KLEIN, C, SAMII, A, ZABETIAN, C. P, NUYTEMANS, K, BONIFATI, V, VAN BROECKHOVEN, C, FARRER, M. J, WSZOLEK, Z. K, ROSS, O. A, GIBSON, J. M, TAN, E.-K, GAIG, C, TOLOSA, E, GOLDWURM, S

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Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations von PANKRATZ, N, KISSELL, D. K, PAUCIULO, M. W, HALTER, C. A, RUDOLPH, A, PFEIFFER, R. F, MARDER, K. S, FOROUD, T, NICHOLS, W. C

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Variation in GIGYF2 is not associated with Parkinson disease von NICHOLS, W. C, KISSELL, D. K, FOROUD, T, PANKRATZ, N, PAUCIULO, M. W, ELSAESSER, V. E, CLARK, K. A, HALTER, C. A, RUDOLPH, A, WOJCIESZEK, J, PFEIFFER, R. F

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A mutation in myotilin causes spheroid body myopathy von FOROUD, T, PANKRATZ, N, FARLOW, M, NICHOLS, W. C, BATCHMAN, A. P, PAUCIULO, M. W, VIDAL, R, MIRAVALLE, L, GOEBEL, H. H, CUSHMAN, L. J, AZZARELLI, B, HORAK, H

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LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8 von NICHOLS, W. C, ELSAESSER, V. E, PANKRATZ, N, PAUCIULO, M. W, MAREK, D. K, HALTER, C. A, RUDOLPH, A, SHULTS, C. W, FOROUD, T

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Heterozygosity for a mutation in the Parkin gene leads to later onset Parkinson disease von FOROUD, T, UNIACKE, S. K, LIU, L, PANKRATZ, N, RUDOLPH, A, HALTER, C, SHULTS, C, MARDER, K, CONNEALLY, P. M, NICHOLS, W. C

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Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci von PANKRATZ, N, UNIACKE, S. K, HALTER, C. A, RUDOLPH, A, SHULTS, C. W, CONNEALLY, P. M, FOROUD, T, NICHOLS, W. C

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Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension von Koehler, R, Grünig, E, Pauciulo, M W, Hoeper, M M, Olschewski, H, Wilkens, H, Halank, M, Winkler, J, Ewert, R, Bremer, H, Kreuscher, S, Janssen, B, Nichols, W C

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Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32 von Nichols, William C, Koller, Daniel L, Slovis, Bonnie, Foroud, Tatiana, Terry, Valeri H, Arnold, Nathan D, Siemieniak, David R, Wheeler, Lisa, Phillips, John A, Newman, John H, Conneally, P. Michael, Ginsburg, David, Loyd, James E

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Molecular Analysis of the ERGIC-53 Gene in 35 Families With Combined Factor V-Factor VIII Deficiency von Neerman-Arbez, M., Johnson, K.M., Morris, M.A., McVey, J.H., Peyvandi, F., Nichols, W.C., Ginsburg, D., Rossier, C., Antonarakis, S.E., Tuddenham, E.G.D.

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Moderation of hemophilia A phenotype by the factor V R506Q mutation von NICHOLS, W. C, AMANO, K, CACHERIS, P. M, FIGUEIREDO, M. S, MICHAELIDES, K, SCHWAAB, R, HOYER, L, KAUFMAN, R. J, GINSBURG, D

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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension von Lane, Kirk B, Machado, Rajiv D, Pauciulo, Michael W, Thomson, Jennifer R, Phillips, John A, Loyd, James E, Nichols, William C, Trembath, Richard C

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Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia von Trembath, Richard C, Thomson, Jennifer R, Machado, Rajiv D, Morgan, Neil V, Atkinson, Carl, Winship, Ingrid, Simonneau, Gerald, Galie, Nazzareno, Loyd, James E, Humbert, Marc, Nichols, William C, Berg, Jonathan, Manes, Alessandra, McGaughran, Julie, Pauciulo, Michael, Wheeler, Lisa, Morrell, Nicholas W

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Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura von Ginsburg, David, Levy, Gallia G, Nichols, William C, Lian, Eric C, Foroud, Tatiana, McClintick, Jeanette N, McGee, Beth M, Yang, Angela Y, Siemieniak, David R, Stark, Kenneth R, Gruppo, Ralph, Sarode, Ravindra, Shurin, Susan B, Chandrasekaran, Visalam, Stabler, Sally P, Sabio, Hernan, Bouhassira, Eric E, Upshaw, Jefferson D, Tsai, Han-Mou

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Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families von Nichols, W C, Pankratz, N, Uniacke, S K, Pauciulo, M W, Halter, C, Rudolph, A, Conneally, P M, Foroud, T

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BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension von Machado, Rajiv D, Pauciulo, Michael W., Thomson, Jennifer R., Lane, Kirk B., Morgan, Neil V., Wheeler, Lisa, Phillips III, John A., Newman, John, Williams, Denise, Galiè, Nazzareno, Manes, Alessandra, McNeil, Keith, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Corris, Paul, Humbert, Marc, Donnai, Dian, Martensson, Gunnar, Tranebjaerg, Lisbeth, Loyd, James E., Trembath, Richard C., Nichols, William C.

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Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex von Ginsburg, David, Zhang, Bin, Cunningham, Michael A, Nichols, William C, Bernat, John A, Seligsohn, Uri, Pipe, Steven W, McVey, John H, Schulte-Overberg, Ursula, de Bosch, Norma B, Ruiz-Saez, Arlette, White, Gilbert C, Tuddenham, EGD, Kaufman, Randal J

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Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family von Thomson, Jennifer R, Machado, Rajiv D, Pauciulo, Michael W, Morgan, Neil V, Humbert, Marc, Elliott, Greg C, Ward, Ken, Yacoub, Magdi, Mikhail, Ghada, Rogers, Paula, Newman, John, Wheeler, Lisa, Higenbottam, Timothy, Gibbs, J Simon R, Egan, Jim, Crozier, Agnes, Peacock, Andrew, Allcock, Robert, Corris, Paul, Loyd, James E, Trembath, Richard C, Nichols, William C

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