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Ian J. Butler
Researcher at University of Texas Health Science Center at Houston
Publications - 136
Citations - 6741
Ian J. Butler is an academic researcher from University of Texas Health Science Center at Houston. The author has contributed to research in topics: Homovanillic acid & Achondroplasia. The author has an hindex of 42, co-authored 135 publications receiving 6431 citations. Previous affiliations of Ian J. Butler include Saint Louis University & Indiana University.
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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
Laura E. Warner,Pedro Mancias,Ian J. Butler,Craig M. McDonald,L. Keppen,K. G. Koob,James R. Lupski +6 more
TL;DR: One recessive and two dominant missense mutations in EGR2 are identified (within regions encoding conserved functional domains) in patients with congenital hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 (CMT1).
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Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Ken Inoue,Mehrdad Khajavi,Tomoko Ohyama,Shin ichi Hirabayashi,John T. Wilson,James D. Reggin,Pedro Mancias,Ian J. Butler,Miles F. Wilkinson,Michael Wegner,James R. Lupski,James R. Lupski +11 more
TL;DR: It is reported that although all nonsense and frameshift mutations that cause premature termination of translation generate truncated SOX10 proteins with potent dominant-negative activity, the more severe disease phenotype, PCWH, is realized only when the mutant mRNAs escape the nonsense-mediated decay (NMD) pathway.
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
Michio Hirano,Gabriella Silvestri,D. M. Blake,Anne Lombès,Carlo Minetti,Eduardo Bonilla,Arthur P. Hays,Robert E. Lovelace,Ian J. Butler,Tulio E. Bertorini,A. B. Threlkeld,Hiroshi Mitsumoto,L. M. Salberg,Lewis P. Rowland,Salvatore DiMauro +14 more
TL;DR: Clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy were studied; nerve conduction and EMG studies were compatible with a sensorimotor neuropathy; quantitative EMG of two patients suggested a myogenic process.
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Kristien Verhoeven,Kristl Claeys,Stephan Züchner,Stephan Züchner,J. Michael Schröder,Joachim Weis,Chantal Ceuterick,Albena Jordanova,Eva Nelis,Els De Vriendt,Matthias Van Hul,Pavel Seeman,Radim Mazanec,Gulam Mustafa Saifi,Kinga Szigeti,Pedro Mancias,Ian J. Butler,Andrzej Kochański,Barbara Ryniewicz,Jan De Bleecker,Peter Van den Bergh,Christine Verellen,Rudy Van Coster,Nathalie Goemans,Michaela Auer-Grumbach,Wim Robberecht,Vedrana Milic Rasic,Yoram Nevo,I. Tournev,Velina Guergueltcheva,Filip Roelens,Peter Vieregge,Paolo Vinci,María Teresa García Moreno,H.-J. Christen,Michael E. Shy,James R. Lupski,Jeffery M. Vance,Peter De Jonghe,Vincent Timmerman +39 more
TL;DR: Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials, whereas a smaller group experienced a later onset and milder disease course.
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Albena Jordanova,P. De Jonghe,Cornelius F. Boerkoel,Hiroshi Takashima,E. De Vriendt,Chantal Ceuterick,J.J. Martin,Ian J. Butler,Pedro Mancias,S. Ch Papasozomenos,D. Terespolsky,Lorraine Potocki,Chester W. Brown,Michael E. Shy,D. A. Rita,Ivailo Tournev,Ivo Kremensky,James R. Lupski,Vincent Timmerman +18 more
TL;DR: The first nerve biopsy of a CMT patient with a de novo missense mutation in NEFL is reported, and an axonal pathology with axonal regeneration clusters and onion bulb formations is found, further evidence that the clinical variation observed in CMT depends on the gene mutated and the specific type of mutation.