Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy

Por Mukerji, Shibani S., Eichler, Florian S.
Publicado no Neurology (2016)

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

Por Wiesinger, Christoph, Eichler, Florian S, Berger, Johannes
Publicado no Appl Clin Genet (2015)

Levodopa Response Reveals Sepiapterin Reductase Deficiency in a Female Heterozygote with Adrenoleukodystrophy

Por Thibert, Ronald, Hyland, Keith, Chiles, Joe, Steinberg, Steven, Eichler, Florian
Publicado em 2011

Cerebral White Matter: Neuroanatomy, Clinical Neurology, and Neurobehavioral Correlates

Por Schmahmann, Jeremy D., Smith, Eric E., Eichler, Florian S., Filley, Christopher M.
Publicado em 2008

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia

Por Jun, Byung Kyu, Chandra, Ankush, Kuljis, Dika, Schmidt, Brian P., Eichler, Florian S.
Publicado no J Neurosci (2015)

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy

Por Musolino, Patricia Leonor, Rapalino, Otto, Caruso, Paul, Caviness, Verne Strudwick, Eichler, Florian Sebald
Publicado em 2012

The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis

Por Clair, Carole, Cohen, Marya J., Eichler, Florian, Selby, Kevin J., Rigotti, Nancy A.
Publicado no J Gen Intern Med (2015)

Natural History of Infantile G(M2) Gangliosidosis

Por Bley, Annette E., Giannikopoulos, Ourania A., Hayden, Doug, Kubilus, Kim, Tifft, Cynthia J., Eichler, Florian S.
Publicado em 2011

Altered sphingoid base profiles in type 1 compared to type 2 diabetes

Por Wei, Nancy, Pan, Jessica, Pop-Busui, Rodica, Othman, Alaa, Alecu, Irina, Hornemann, Thorsten, Eichler, Florian S
Publicado no Lipids Health Dis (2014)

Metachromatic Leukodystrophy: a Case of Triplets with the Late Infantile Variant and a Systematic Review of the Literature

Por Mahmood, Asif, Berry, Jay, Wenger, David A., Escolar, Maria, Sobeih, Magdi, Raymond, Gerald, Eichler, Florian S.
Publicado no J Child Neurol (2009)

Imaging Cerebral Gene Transcripts in Live Animals

Por Liu, Christina H., Kim, Young R., Ren, Jia Q., Eichler, Florian, Rosen, Bruce R., Liu, Philip K.
Publicado em 2007

7 Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy

Por Ratai, Eva, Kok, Trina, Wiggins, Christopher, Wiggins, Graham, Grant, Ellen, Gagoski, Borjan, O'Neill, Gilmore, Adalsteinsson, Elfar, Eichler, Florian
Publicado em 2008

Hematopoietic Stem Cell Transplantation in the Leukodystrophies: A Systematic Review of the Literature

Por Musolino, Patricia L., Lund, Troy C., Pan, Jessica, Escolar, Maria L., Paker, Asif M., Duncan, Christine N., Eichler, Florian S.
Publicado em 2014

Natural history and biomarkers in hereditary sensory neuropathy type 1

Por Fridman, Vera, Oaklander, Anne louise, David, William S, Johnson, Elise A, Pan, Jessica, Novak, Peter, Brown, Robert H, Eichler, Florian S
Publicado no Muscle Nerve (2015)

Adenoassociated Virus Serotype 9-Mediated Gene Therapy for X-Linked Adrenoleukodystrophy

Por Gong, Yi, Mu, Dakai, Prabhakar, Shilpa, Moser, Ann, Musolino, Patricia, Ren, JiaQian, Breakefield, Xandra O, Maguire, Casey A, Eichler, Florian S
Publicado no Mol Ther (2015)

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

Por Han, Gongshe, Gupta, Sita D., Gable, Kenneth, Niranjanakumari, Somashekarappa, Moitra, Prasun, Eichler, Florian, Brown, Robert H., Harmon, Jeffrey M., Dunn, Teresa M.
Publicado em 2009

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

Por Garofalo, Kevin, Penno, Anke, Schmidt, Brian P., Lee, Ho-Joon, Frosch, Matthew P., von Eckardstein, Arnold, Brown, Robert H., Hornemann, Thorsten, Eichler, Florian S.
Publicado em 2011

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

Por Musolino, Patricia L., Gong, Yi, Snyder, Juliet M. T., Jimenez, Sandra, Lok, Josephine, Lo, Eng H., Moser, Ann B., Grabowski, Eric F., Frosch, Matthew P., Eichler, Florian S.
Publicado no Brain (2015)

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

Por Penno, Anke, Reilly, Mary M., Houlden, Henry, Laurá, Matilde, Rentsch, Katharina, Niederkofler, Vera, Stoeckli, Esther T., Nicholson, Garth, Eichler, Florian, Brown, Robert H., von Eckardstein, Arnold, Hornemann, Thorsten
Publicado em 2010

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

Por Eichler, Florian S., Li, Jiankang, Guo, Yiran, Caruso, Paul A., Bjonnes, Andrew C., Pan, Jessica, Booker, Jessica K., Lane, Jacqueline M., Tare, Archana, Vlasac, Irma, Hakonarson, Hakon, Gusella, James F., Zhang, Jianguo, Keating, Brendan J., Saxena, Richa
Publicado no Brain (2016)