J. Mannetter
2 Papers
10 Citations
J. Mannetter is an academic researcher. The author has contributed to research in topics: LRRK2. The author has an hindex of 2, co-authored 2 publications.
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Papers
R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
William C. Nichols,William C. Nichols,Diane K. Marek,Michael W. Pauciulo,Nathan Pankratz,Cheryl Halter,Alice Rudolph,Clifford W. Shults,Clifford W. Shults,Joanne Wojcieszek,Tatiana Foroud,Cliff Shults,Frederick J. Marshall,David Oakes,Anja Rudolph,Aileen Shinaman,Karen Marder,P. M. Conneally,T. Foroud,C. Halter,Kelly E. Lyons,Eric Siemers,Stewart A. Factor,Donald S. Higgins,Sharon Evans,Holly A. Shill,Mark Stacy,J. Danielson,Lynn Marlor,Kelli Williamson,Joseph Jankovic,Christine Hunter,David Simon,P. Ryan,Lisa Scollins,Rachel Saunders-Pullman,Karyn Boyar,C. Costan-Toth,E. Ohmann,Lewis Sudarsky,C. Joubert,Joseph H. Friedman,Kelvin L. Chou,Hubert H. Fernandez,Margaret C. Lannon,Nestor Galvez-Jimenez,A. Podichetty,Peter A LeWitt,Maryan DeAngelis,Christopher F. O'Brien,Lauren Seeberger,C. Dingmann,Deborah Judd,J. Fraser,Juliette Harris,John M. Bertoni,Carolyn Peterson,S. Chouinard,M. Panisset,J. Hall,H. Poiffaut,Vincent Calabrese,Peggy Roberge,J. Wojcieszek,Joann Belden,Danna Jennings,Kenneth Marek,Susan Mendick,Stephen G. Reich,Becky Dunlop,Mandar Jog,C. Horn,Jayaraman Rao,Maureen Cook,Ryan J. Uitti,Margaret F. Turk,T. Ajax,J. Mannetter,Kapil D. Sethi,J. Carpenter,K. Ligon,S. Narayan,L. Woodward,Karen Blindauer,Jeannine Petit,L. Elmer,E. Aiken,Kathy Davis,C. Schell,S. Wilson,Miodrag Velickovic,William C. Koller,S. Phipps,Andrew Feigin,Marc L. Gordon,Joanna Hamann,E. Licari,M. Marotta-Kollarus,Barbara Shannon,Roberta Winnick,Tanya Simuni,A. Kaczmarek,Karen Williams,M. Wolff,Magali Fernandez,Jean P. Hubble,Sandra K. Kostyk,A. Campbell,Carson Reider,Richard Camicioli,Julie H. Carter,Pam Andrews,S. Morehouse,C. Stone,Tilak Mendis,David Grimes,Peggy Gray,K. Haas,James Sutton,B. Hutchinson,Joan Young,A. H. Rajput,L. Klassen,T. Shirley,Bala V. Manyam,Patricia Simpson,J. Whetteckey,Brian Wulbrecht,Daniel D. Truong,Mayank Pathak,N. Luong,T. Tra,An Tran,J. Vo,Anthony E. Lang,Galit Kleiner-Fisman,Anette Nieves,Julie So,G. Podskalny,L. Giffin,Paul Atchison,C. Allen,W.R. Wayne Martin,Marguerite Wieler,Oksana Suchowersky,Mary Lou Klimek,Neal Hermanowicz,Shari Niswonger,Deborah Fontaine,Michael J. Aminoff,Chad W. Christine,Mariann DiMinno,J. Hevezi,Arif Dalvi,Un Jung Kang,Judy Richman,Shirley Uy,Alok Sahay,Donna Schwieterman,Maureen A. Leehey,S. Culver,Theresa Derian,T. Demarcaida,S. Belber,Robert L. Rodnitzky,Judith Dobson,Rajesh Pahwa,T. Gales,Stephanie Thomas,L. Shulman,W. Weiner,K. Dustin,Carlos Singer,L. Zelaya,Paul J. Tuite,V. Hagen,Susan Rolandelli,Robyn Schacherer,Paul Gordon,Joan Werner,Carmen Serrano,Sandra Roque,R. Kurlan,Debra Berry,Irenita Gardiner,Robert A. Hauser,Juan Sanchez-Ramos,Theresa A. Zesiewicz,Holly Delgado,K. Price,P. Rodriguez,Ronald F. Pfeiffer,L. Davis,Brenda Pfeiffer,Richard B. Dewey,B. Hayward,M. Meacham,Francis O. Walker,Vicki Hunt,Brad A. Racette,L. Good,M. Rundle,Arthur Watts,A. Wang,Tori Ross,Susan Bennett,D. Kamp,E. Julian-Baros +207 more
TL;DR: Data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation, and it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing.
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Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease
Nathan Pankratz,Michael W. Pauciulo,V. E. Elsaesser,Diane K. Marek,Cheyl A. Halter,Alice Rudolph,Clifford W. Shults,Clifford W. Shults,Tatiana Foroud,William C. Nichols,William C. Nichols,Cliff Shults,Frederick J. Marshall,David Oakes,Aileen Shinaman,Karen Marder,P. M. Conneally,Kelly E. Lyons,Eric Siemers,Stewart A. Factor,Donald S. Higgins,Sharon Evans,H. Shill,M. Stacy,J. Danielson,L. Marlor,K. Williamson,Joseph Jankovic,Christine Hunter,David Simon,P. Ryan,Lisa Scollins,Rachel Saunders-Pullman,Karyn Boyar,C. Costan-Toth,E. Ohmann,Lewis Sudarsky,C. Joubert,Joseph H. Friedman,Kelvin L. Chou,Hubert H. Fernandez,Margaret C. Lannon,Nestor Galvez-Jimenez,A. Podichetty,Peter A. LeWitt,Maryan DeAngelis,Christopher F. O'Brien,Lauren Seeberger,C. Dingmann,Deborah Judd,J. Fraser,Juliette Harris,John M. Bertoni,Carolyn Peterson,S. Chouinard,Michel Panisset,Michel Panisset,Jean Hall,Jean Hall,H. Poiffaut,Vincent Calabrese,Peggy Roberge,Joanne Wojcieszek,Joann Belden,Cheryl Halter,Danna Jennings,Kenneth Marek,Susan Mendick,Stephen G. Reich,Becky Dunlop,Mandar Jog,C. Horn,Jayaraman Rao,Maureen Cook,Ryan J. Uitti,Margaret F. Turk,T. Ajax,J. Mannetter,Kapil D. Sethi,J. Carpenter,K. Ligon,S. Narayan,L. Woodward,Karen Blindauer,Jeannine Petit,L. Elmer,E. Aiken,Kathy Davis,C. Schell,S. Wilson,Miodrag Velickovic,William C. Koller,S. Phipps,Andrew Feigin,Mark Forrest Gordon,Joanna Hamann,E. Licari,M. Marotta-Kollarus,Barbara Shannon,Roberta Winnick,Tatyana Simuni,A. Kaczmarek,Karen Williams +102 more
TL;DR: Although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent and only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in the patient cohort.