Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
Dib-Hajj, S. D., Rush, A. M., Cummins, T. R., Hisama, F. M., Novella, S., Tyrrell, L., Marshall, L., Waxman, S. G.
Published in Brain (London, England : 1878) (01.08.2005)
Published in Brain (London, England : 1878) (01.08.2005)
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Journal Article
A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features
Saha, B., Lessel, D., Hisama, F.M., Leistritz, D.F., Friedrich, K., Martin, G.M., Kubisch, C., Oshima, J.
Published in Molecular syndromology (01.09.2010)
Published in Molecular syndromology (01.09.2010)
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Journal Article
Comparison of Methods for Identifying Transcription Units and Transcription Map of the Werner Syndrome Gene Region
Hisama, Fuki M., Oshima, Junko, Yu, Chang-En, Fu, Ying-Hui, Mulligan, John, Weissman, Sherman M., Schellenberg, Gerard D.
Published in Genomics (San Diego, Calif.) (15.09.1998)
Published in Genomics (San Diego, Calif.) (15.09.1998)
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Journal Article
GABA and the ornithineδ-aminotransferase gene in vigabatrin-associated visual field defects
Hisama, Fuki M, Mattson, Richard H, Lee, Helen H, Felice, Kristin, Petroff, Ognen A.C
Published in Seizure (London, England) (01.10.2001)
Published in Seizure (London, England) (01.10.2001)
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Journal Article
Gain-of-function mutation in Na sub(v)1.7 in familial erythromelalgia induces bursting of sensory neurons
Dib-Hajj, S D, Rush, A M, Cummins, T R, Hisama, F M, Novella, S, Tyrrell, L, Marshall, L, Waxman, S G
Published in Brain (London, England : 1878) (01.08.2005)
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Published in Brain (London, England : 1878) (01.08.2005)
Journal Article
Clinical and Molecular Studies in a Family With Probable X-linked Dominant Charcot-Marie-Tooth Disease Involving the Central Nervous System
Hisama, Fuki M, Lee, Helen H, Vashlishan, Amy, Tekumalla, Poornima, Russell, David S, Auld, Elizabeth, Goldstein, Jonathan M
Published in Archives of neurology (Chicago) (01.11.2001)
Published in Archives of neurology (Chicago) (01.11.2001)
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Journal Article
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features
Fertig, Evan, Lincoln, Anne, Martinuzzi, Andrea, Mattson, Richard H, Hisama, Fuki M
Published in Neurology (27.05.2003)
Published in Neurology (27.05.2003)
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Journal Article
Human GABA(B) receptor 1 gene: eight novel sequence variants
Hisama, F M, Gruen, J R, Choi, J, Huseinovic, M, Grigorenko, E L, Pauls, D, Mattson, R H, Gelernter, J, Wood, F B, Goei, V L
Published in Human mutation (01.04.2001)
Published in Human mutation (01.04.2001)
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Journal Article
FXTAS, SCA10, and SCA17 in American patients with movement disorders
Seixas, Ana I., Maurer, Martin H., Lin, Mark, Callahan, Colleen, Ahuja, Alka, Matsuura, Tohru, Ross, Christopher A., Hisama, Fuki M., Silveira, Isabel, Margolis, Russell L.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Journal Article
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters
Hisama, F M, Zemel, S, Cherniske, E M, Vladutiu, G D, Pober, B R
Published in American journal of medical genetics (15.01.2001)
Published in American journal of medical genetics (15.01.2001)
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Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Drazinic, Carolyn M., Ercan-Sencicek, Adife G., Gault, Laura M., Hisama, Fuki M., Qumsiyeh, Mazin B., Nowak, Norma J., Cubells, Joseph F., State, Matthew W.
Published in American journal of medical genetics. Part A (30.04.2005)
Published in American journal of medical genetics. Part A (30.04.2005)
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