Medical school core curriculum in genetics.

Por Hayflick, S J
Publicado em 1995

Mutations in PLA2G6 and the riddle of Schindler disease

Por Westaway, S K, Gregory, A, Hayflick, S J, Hayflick, S J
Publicado em 2007

Defective pantothenate metabolism and neurodegeneration

Por Hayflick, Susan J.
Publicado no Biochem Soc Trans (2014)

Neurodegeneration with brain iron accumulation

Por Gregory, Allison, Hayflick, Susan J.
Publicado em 2005

As iron goes, so goes disease?

Por Hayflick, Susan J., Hogarth, Penelope
Publicado em 2011

Genetics of Neurodegeneration with Brain Iron Accumulation

Por Gregory, Allison, Hayflick, Susan J.
Publicado no Curr Neurol Neurosci Rep (2011)

Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN): Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Ph...

Por Kurian, Manju A., Hayflick, Susan J.
Publicado no Int Rev Neurobiol (2013)

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

Por Kuo, Y. M., Hayflick, S. J., Gitschier, J.
Publicado em 2007

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

Por Gregory, A, Polster, B J, Hayflick, S J
Publicado em 2008

Characterization of the human PANK2 promoter

Por Polster, Brenda J., Yoon, Moon Y., Hayflick, Susan J.
Publicado em 2010

Brain MRI in Neurodegeneration with Brain Iron Accumulation with and without PANK2 Mutations

Por Hayflick, S.J., Hartman, M., Coryell, J., Gitschier, J., Rowley, H.
Publicado em 2006

Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration

Por Williams, Sarah, Gregory, Allison, Hogarth, Penelope, Hayflick, Susan J., Gillingham, Melanie B.
Publicado no Mol Genet Metab (2013)

Spontaneous Murine Neuroaxonal Dystrophy: a Model of Infantile Neuroaxonal Dystrophy

Por Bouley, D. M., McIntire, J. J., Harris, B. T., Tolwani, R. J., Otto, G. M., DeKruyff, R. H., Hayflick, S. J.
Publicado em 2006

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia

Por Kuo, Yien-Ming, Duncan, Jacque L., Westaway, Shawn K., Yang, Haidong, Nune, George, Xu, Eugene Yujun, Hayflick, Susan J., Gitschier, Jane
Publicado em 2004

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Por Kruer, Michael C., Hiken, Mark, Gregory, Allison, Malandrini, Alessandro, Clark, David, Hogarth, Penny, Grafe, Marjorie, Hayflick, Susan J., Woltjer, Randall L.
Publicado em 2011

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Por Egan, Robert A., Weleber, Richard G., Hogarth, Penelope, Gregory, Allison, Coryell, Jason, Westaway, Shawn K., Gitschier, Jane, Das, Soma, Hayflick, Susan J.
Publicado em 2005

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

Por McNeill, A, Birchall, D, Hayflick, S J., Gregory, A, Schenk, J F., Zimmerman, E A., Shang, H, Miyajima, H, Chinnery, P F.
Publicado em 2008

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Por Zhang, Yu-hu, Tang, Bei-sha, Zhao, Ai-ling, Xia, Kun, Long, Zhi-gao, Guo, Ji-feng, Westaway, Shawn K., Hayflick, Susan J.
Publicado em 2005

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

Por Rump, P., Lemmink, H. H., Verschuuren-Bemelmans, C. C., Grootscholten, P. M., Vos, Y. J., van Essen, A. J., Fock, J. M., Hayflick, S. J., Westaway, S. K.
Publicado em 2005

Brain, blood, and iron: Perspectives on the roles of erythrocytes and iron in neurodegeneration

Por Prohaska, Rainer, Sibon, Ody C.M., Rudnicki, Dobrila D., Danek, Adrian, Hayflick, Susan J., Verhaag, Esther M., Jan J, Vonk, Margolis, Russell L., Walker, Ruth H.
Publicado em 2012