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Fuki Hisama

Research Profile

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Publications

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Kira A Dies; Chao-Yu Guo; Fuki M Hisama; A James Barkovich; Brenda Barry; Adria Bodell; Bernard S Chang; Christopher A Walsh
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
Fuki M Hisama; Christian Kubisch; George M Martin; Oshima Junko
Clinical utility gene card for: Werner syndrome.
Fuki M Hisama; Christian Kubisch; Dru Leistritz; Davor Lessel; George M Martin; Kim L McBride; Katrin Friedrich; Gary S Gottesman; Matthew T Pastore; Bidisha Saha; Junko Oshima
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

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All Publications

2013: Kira A Dies; Chao-Yu Guo; Fuki M Hisama; A James Barkovich; Brenda Barry; Adria Bodell; Bernard S Chang; Christopher A Walsh
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
Journal of child neurology 2013;28(2):198-203.
2012: Fuki M Hisama; Christian Kubisch; George M Martin; Oshima Junko
Clinical utility gene card for: Werner syndrome.
European journal of human genetics : EJHG 2012;20(5):.
2011: Fuki M Hisama; Christian Kubisch; Dru Leistritz; Davor Lessel; George M Martin; Kim L McBride; Katrin Friedrich; Gary S Gottesman; Matthew T Pastore; Bidisha Saha; Junko Oshima
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.
American journal of medical genetics. Part A 2011;155A(12):3002-6.
2011: David C Yu; Fuki M Hisama; Patrick J Javid; Bhavana Pathak; Sara O Vargas; Jay M Wilson; Bradley C Linden
Congenital intra-abdominal bilateral juvenile granulosa cell tumors of the testis associated with constitutional loss of material from chromosome 4.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2011;14(3):224-7.
2010: Katrin Friedrich; Lin Lee; Dru F Leistritz; Gudrun Nürnberg; Bidisha Saha; Fuki M Hisama; Daniel K Eyman; Davor Lessel; Peter Nürnberg; Chumei Li; María J Garcia-F-Villalta; Carolien M Kets; Joerg Schmidtke; Vítor Tedim Cruz; Peter C Van den Akker; Joseph Boak; Dincy Peter; Goli Compoginis; Kivanc Cefle; Sukru Ozturk; Norberto López; Theda Wessel; Martin Poot; P F Ippel; Birgit Groff-Kellermann; Holger Hoehn; George M Martin; Christian Kubisch; Oshima Junko
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Human genetics 2010;128(1):103-11.
2009: Carolin I Dohle; Serguei Bannykh; Fuki M Hisama; Joachim M Baehring
Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.
Journal of the neurological sciences 2009;285(1-2):235-7.
2009: Aviva Fattal-Valevski; Miriam S DiMaio; Fuki M Hisama; Grace M Hobson; Angelique Davis-Williams; James Y Garbern; Maurice J Mahoney; Edwin H Kolodny; Gregory M Pastores
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Journal of child neurology 2009;24(5):618-24.
2009: Liana Veneziano; serena guida; Elide Mantuano; Paola Bernard; Patrizia Tarantino; Loredana Boccone; Fuki M Hisama; Paola Carrera; C Jodice; Marina Frontali
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
Journal of the neurological sciences 2009;276(1-2):31-7.
2008: Stephane Budel; Thihan Padukkavidana; Betty P Liu; Zeny Feng; Fenghua Hu; Sam Johnson; Juha Lauren; James H Park; Aaron W McGee; Ji Liao; Althea Stillman; Ji-Eun Kim; Bao-Zhu Yang; Stefano Sodi; Joel Gelernter; Hongyu Zhao; Fuki M Hisama; Amy F T Arnsten; Stephen M Strittmatter
Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(49):13161-72.
2008: Pei-Wen Chiang; Anne B Fulton; Elaine Spector; Fuki M Hisama
Synergistic interaction of the OCA2 and OCA3 genes in a family.
American journal of medical genetics. Part A 2008;146A(18):2427-30.
2008: William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher Walsh; Richard J Leventer; Christa Lese Martin; Marzena Gajecka; Lisa Shaffer
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
American journal of medical genetics. Part A 2008;146A(13):1637-54.
2007: Steven P Novella; Fuki M Hisama; Sulayman D Dib-Hajj; Stephen G Waxman
A case of inherited erythromelalgia.
Nature clinical practice. Neurology 2007;3(4):229-34.
2007: Haijun Chen; Christian A A von Hehn; Leonard K Kaczmarek; Laura R Ment; Barbara R Pober; Fuki M Hisama
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
Neurogenetics 2007;8(2):131-5.
2006: T Patrick Harty; Sulayman D Dib-Hajj; Lynda Tyrrell; Rachael Blackman; Fuki M Hisama; John B Rose; Stephen G Waxman
Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(48):12566-75.
2006: Fuki M Hisama; Vilhelm A Bohr; Oshima Junko
WRN's tenth anniversary.
Science of aging knowledge environment : SAGE KE 2006;2006(10):pe18.
2005: Sulayman D Dib-Hajj; A M Rush; Theodore R Cummins; Fuki M Hisama; Steven P Novella; Lynda Tyrrell; L Marshall; Stephen G Waxman
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
Brain : a journal of neurology 2005;128(Pt 8):1847-54.
2005: Ana I Seixas; Martin H Maurer; Mark Lin; Colleen Callahan; Alka Ahuja; Tohru Matsuura; Christopher A Ross; Fuki M Hisama; Isabel Silveira; Russell L Margolis
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
American journal of medical genetics. Part A 2005;136(1):87-9.
2005: Fuki M Hisama; Michelangelo Mancuso; Massimiliano Filosto; Salvatore DiMauro
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.
American journal of medical genetics. Part A 2005;135(2):217-9.
2005: Carolyn M Drazinic; A Gulhan Ercan-Sencicek; Laura M Gault; Fuki M Hisama; Mazin B Qumsiyeh; Norma J Nowak; Joseph F Cubells; Sate Matthew
Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).
American journal of medical genetics. Part A 2005;134(3):282-9.
2005: Fuki M Hisama
Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
Archives of neurology 2005;62(1):135-8.
2003: D Weisman; Fuki M Hisama; Stephen G Waxman; Hal Blumenfeld
Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion.
Neurology 2003;60(11):1865-6.
2003: Evan Fertig; Anne Lincoln; Andrea Martinuzzi; Richard H Mattson; Fuki M Hisama
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.
Neurology 2003;60(10):1687-90.
2001: Fuki M Hisama; H H Lee; A Vashlishan; P Tekumalla; David S Russell; E Auld; J M Goldstein
Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system.
Archives of neurology 2001;58(11):1891-6.
2001: Fuki M Hisama; Richard H Mattson; H H Lee; K Felice; Ognen A C Petroff
GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated visual field defects.
Seizure : the journal of the British Epilepsy Association 2001;10(7):505-7.
2001: Fuki M Hisama; Jeffrey R Gruen; J Choi; M Huseinovic; Elena L Grigorenko; David L Pauls; Richard H Mattson; Joel Gelernter; Frank B Wood; VL Goei
Human GABA(B) receptor 1 gene: eight novel sequence variants.
Human mutation 2001;17(4):349-50.
2001: Fuki M Hisama; S Zemel; Elizabeth M Cherniske; G D Vladutiu; Barbara R Pober
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.
American journal of medical genetics 2001;98(2):121-4.
2000: Fuki M Hisama; Y H Chen; M Stephen Meyn; Oshima Junko; Sherman M Weissman
WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts.
Cancer research 2000;60(9):2372-6.
1998: Fuki M Hisama; Miguel Reyes-Mugica; D S Wargowski; K J Thompson; M J Mahoney
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.
American journal of medical genetics 1998;80(4):335-42.
1998: Fuki M Hisama; Oshima Junko; Chang-En Yu; Y H Fu; J Mulligan; Sherman M Weissman; Gerard D Schellenberg
Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region.
Genomics 1998;52(3):352-7.
1998: V Sharma; Parvoneh Poorkaj-Navas; Fuki M Hisama; L Bonnycastle; Chang-En Yu; H Massa; Barbara J Trask; Kevin Clancy; D Patterson; Sherman M Weissman; Gerard D Schellenberg
An expression map from human chromosome 14q24.3.
Genomics 1998;47(2):314-8.
1996: Chang-En Yu; Oshima Junko; Fuki M Hisama; S Matthews; Barbara J Trask; Gerard D Schellenberg
A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21.
Genomics 1996;35(3):431-40.
1996: Chang-En Yu; Oshima Junko; Y H Fu; Ellen M Wijsman; Fuki M Hisama; R Alisch; S Matthews; Jun Nakura; T Miki; S Ouais; George M Martin; J Mulligan; Gerard D Schellenberg
Positional cloning of the Werner's syndrome gene.
Science (New York, N.Y.) 1996;272(5259):258-62.