MagaliJeanetteFernandezMD

PubMed

• 8 citations
  R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation
  William C. Nichols, Diane K. Marek, Michael W. Pauciulo, Nathan Pankratz, Cheryl Halter, Alice Rudolph, Clifford W. Shults, Joanne Wojcieszek, Tatiana Foroud, Cliff Sh...> ;Movement Disorders. 2007 Jan 15
• 86 citations
  Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementia.
  Nathan Pankratz, Lisa Byder, Cheryl Halter, Alice Rudolph, Clifford W. Shults, P. Michael Conneally, Tatiana Foroud, William C. Nichols, Kelly E. Lyons, Karen Marder, ...> ;Movement Disorders. 2006 Jan 1
• 58 citations
  The clinical and genetic spectrum of spinocerebellar ataxia 14
  Dong Hui Chen, Patrick J. Cimino, Laura P.W. Ranum, Huda Y. Zoghbi, Ichiro Yabe, Lawrence J. Schut, Russell L. Margolis, Hillary Lipe, A. Feleke, Mark Matsushita, John...> ;Neurology. 2005 Apr 12
• 27 citations
  Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease
  William C. Nichols, Sean K. Uniacke, Nathan Pankratz, Terry Reed, David Simon, Cheryl Halter, Alice Rudolph, Clifford W. Shults, P. Michael Conneally, Tatiana Foroud, ...> ;Movement Disorders. 2004 Jun 1
• 215 citations
  Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-K...
  Xiao Ping Zhou, Kristin A. Waite, Robert Pilarski, Heather Hampel, Magali Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich...> ;American Journal of Human Genetics. 2003 Aug 1
• 100 citations
  Significant Linkage of Parkinson Disease to Chromosome 2q36-37
  Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Alice Rudolph, Cliff Shults, P. Michael Conneally, Tatiana Foroud, Lawrence I. Golbe, William C. K...> ;American Journal of Human Genetics. 2003 Apr 1
• 184 citations
  Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia
  Dong Hui Chen, Zoran Brkanac, Christophe L. M. J. Verlinde, Xiao Jian Tan, Laura Bylenok, David Nochlin, Mark Matsushita, Hillary Lipe, John Wolff, Magali Fernandez, P...> ;American Journal of Human Genetics. 2003 Apr 1
• 167 citations
  Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
  Tatiana Foroud, Sean K. Uniacke, L. Liu, Nathan Pankratz, Anja Rudolph, Cheryl Halter, Clifford W. Shults, Karen Marder, P. M. Conneally, William C. Nichols, Lawrence ...> ;Neurology. 2003 Mar 11
• 304 citations
  A role for mitochondrial enzymes in inherited neoplasia and beyond.
  Charis Eng, Maija Ht Kiuru, Magali Fernandez, Lauri A. Aaltonen> ;Nature Reviews. Cancer. 2003 Mar 1
• 50 citations
  A New Dominant Spinocerebellar Ataxia Linked to Chromosome 19q13.4-qter
  Zoran Brkanac, Laura Bylenok, Magali Fernandez, Mark Matsushita, Hillary Lipe, John Wolff, David Nochlin, Wendy H. Raskind, Thomas D. Bird> ;Archives of Neurology. 2002 Aug 1
• 10 citations
  The expanding role of PTEN in neoplasia: a molecule for all seasons? Commentary re: M. A. Davies, et al., Adenoviral-mediated expression of MMAC/PTEN inhibits prolifer...
  Magali Fernandez, Charis Eng> ;Clinical Cancer Research. 2002 Jun 1
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