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ME Hodes

Research Profile

Chemicals & Drugs

Disorders

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Anatomy

X Chromosome

Physiology

Point Mutation

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Amino Acid Sequences

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Karen J Woodward; Maria Cundall; Karen Sperle; Erik A Sistermans; Mark Ross; Gareth Howell; Susan M Gribble; Deborah C Burford; Nigel P Carter; Donald L Hobson; James Y Garbern; John Kamholz; Hong-Qiang Heng; ME Hodes; Sue Malcolm; Grace M Hobson
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Q Gao; Virginia C Thurston; Gail H Vance; Stephen R Dlouhy; ME Hodes
Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
Sandra Close Kirkwood; Eric R Siemers; Richard J Viken; ME Hodes; P Michael Conneally; Joe C Christian; Tatiana Foroud
Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.

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All Publications

2005: Karen J Woodward; Maria Cundall; Karen Sperle; Erik A Sistermans; Mark Ross; Gareth Howell; Susan M Gribble; Deborah C Burford; Nigel P Carter; Donald L Hobson; James Y Garbern; John Kamholz; Hong-Qiang Heng; ME Hodes; Sue Malcolm; Grace M Hobson
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
American journal of human genetics 2005;77(6):966-87.
2005: Q Gao; Virginia C Thurston; Gail H Vance; Stephen R Dlouhy; ME Hodes
Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
Clinical genetics 2005;68(5):466-7.
2002: Sandra Close Kirkwood; Eric R Siemers; Richard J Viken; ME Hodes; P Michael Conneally; Joe C Christian; Tatiana Foroud
Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales.
Journal of psychiatric research 2002;36(6):377-82.
2002: Ken Inoue; Hitoshi Osaka; Virginia C Thurston; Joe T R Clarke; Akira Yoneyama; Lisa Rosenbarker; Thomas D Bird; ME Hodes; Lisa Shaffer; James R Lupski
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
American journal of human genetics 2002;71(4):838-53.
2002: Sandra Close Kirkwood; Eric R Siemers; Richard J Viken; ME Hodes; P Michael Conneally; Joe C Christian; Tatiana Foroud
Longitudinal personality changes among presymptomatic Huntington disease gene carriers.
Neuropsychiatry, neuropsychology, and behavioral neurology 2002;15(3):192-7.
2000: Sandra Close Kirkwood; Eric R Siemers; ME Hodes; P Michael Conneally; Joe C Christian; Tatiana Foroud
Subtle changes among presymptomatic carriers of the Huntington's disease gene.
Journal of neurology, neurosurgery, and psychiatry 2000;69(6):773-9.
2000: ME Hodes; Karen J Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; John Kamholz; D Stambolian; E H Zackai; VM Pratt; I T Thomas; K Crandall; Stephen R Dlouhy; Sue Malcolm
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
American journal of human genetics 2000;67(1):14-22.
1999: James Y Garbern; Franca Cambi; Richard Alan Lewis; chris hall; Anders A F Sima; G Kraft; Jean-Michel Vallat; E P Bosch; ME Hodes; Stephen R Dlouhy; Wendy H Raskind; Thomas D Bird; Wendy B Macklin; John Kamholz
Peripheral neuropathy caused by proteolipid protein gene mutations.
Annals of the New York Academy of Sciences 1999;883():351-65.
1999: Sandra Close Kirkwood; Eric R Siemers; Julie C Stout; ME Hodes; P Michael Conneally; Joe C Christian; Tatiana Foroud
Longitudinal cognitive and motor changes among presymptomatic Huntington disease gene carriers.
Archives of neurology 1999;56(5):563-8.
1999: ME Hodes; Andrew W Zimmerman; A Aydanian; Sakkubai Naidu; Neil R Miller; J L Garcia Oller; B Barker; K A Aleck; T D Hurley; Stephen R Dlouhy
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
American journal of medical genetics 1999;82(2):132-9.
1998: Neena B Schwartz; Marta Szabo; Tatyana Verina; J Wei; Stephen R Dlouhy; L Won; A Heller; ME Hodes; Bernardino Ghetti
Hypothalamic-pituitary-gonadal axis in the mutant weaver mouse.
Neuroendocrinology 1998;68(6):374-85.
1998: ME Hodes; A Aydanian; Stephen R Dlouhy; D T Whelan; Tim Heshka; G Ronen
A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
Clinical genetics 1998;54(3):248-9.
1998: J Wei; ME Hodes; Roberto Piva; Y Feng; Y Wang; Bernardino Ghetti; Stephen R Dlouhy
Characterization of murine Girk2 transcript isoforms: structure and differential expression.
Genomics 1998;51(3):379-90.
1998: ME Hodes; A Hadjisavvas; I J Butler; A Aydanian; Stephen R Dlouhy
X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
American journal of medical genetics 1998;75(5):516-7.
1997: antonio migheli; Roberto Piva; J Wei; A Attanasio; S Casolino; ME Hodes; Stephen R Dlouhy; S A Bayer; Bernardino Ghetti
Diverse cell death pathways result from a single missense mutation in weaver mouse.
The American journal of pathology 1997;151(6):1629-38.
1997: Sakkubai Naidu; Stephen R Dlouhy; Michael T Geraghty; ME Hodes
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.
Journal of inherited metabolic disease 1997;20(6):811-6.
1997: C Bond; X Si; M Crisp; P Wong; G W Paulson; C P Boesel; Stephen R Dlouhy; ME Hodes
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
American journal of medical genetics 1997;71(3):357-60.
1997: James Y Garbern; Franca Cambi; X M Tang; Anders A F Sima; Jean-Michel Vallat; E P Bosch; Richard Alan Lewis; chris hall; J Sohi; G Kraft; KL Chen; I Joshi; D G Leonard; W Johnson; Wendy H Raskind; Stephen R Dlouhy; VM Pratt; ME Hodes; Thomas D Bird; John Kamholz
Proteolipid protein is necessary in peripheral as well as central myelin.
Neuron 1997;19(1):205-18.
1997: J Wei; Stephen R Dlouhy; S Bayer; Roberto Piva; Tatyana Verina; Y Wang; Y Feng; B Dupree; ME Hodes; Bernardino Ghetti
In situ hybridization analysis of Girk2 expression in the developing central nervous system in normal and weaver mice.
Journal of neuropathology and experimental neurology 1997;56(7):762-71.
1997: ME Hodes; C A Blank; VM Pratt; J Morales; J Napier; Stephen R Dlouhy
Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
American journal of medical genetics 1997;69(2):121-5.
1996: M A Nance; Simeon Boyd; V M Pratt; S Taylor; ME Hodes; Stephen R Dlouhy
Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.
Neurology 1996;47(5):1333-5.
1996: S A Bayer; K V Wills; J Wei; Y Feng; Stephen R Dlouhy; ME Hodes; Tatyana Verina; Bernardino Ghetti
Phenotypic effects of the weaver gene are evident in the embryonic cerebellum but not in the ventral midbrain.
Brain research. Developmental brain research 1996;96(1-2):130-7.
1996: Y Tong; J Wei; Shaobo Zhang; J A Strong; Stephen R Dlouhy; ME Hodes; Bernardino Ghetti; Lei Yu
The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2.
FEBS letters 1996;390(1):63-8.
1996: Eric R Siemers; T Foroud; D J Bill; J Sorbel; J A Norton; ME Hodes; G Niebler; P M Conneally; Joe C Christian
Motor changes in presymptomatic Huntington disease gene carriers.
Archives of neurology 1996;53(6):487-92.
1996: J Wei; Stephen R Dlouhy; A Hara; Bernardino Ghetti; ME Hodes
Cloning a cDNA for carbonyl reductase (Cbr) from mouse cerebellum: murine genes that express cbr map to chromosomes 16 and 11.
Genomics 1996;34(1):147-8.
1996: J Wei; Stephen R Dlouhy; Y Wang; J Zhu; L Fitzpatrick; Bernardino Ghetti; ME Hodes
Linkage mapping of microdissected clones from distal mouse chromosome 16.
Somatic cell and molecular genetics 1996;22(3):227-32.
1995: V M Pratt; Simeon Boyd; K Green; ME Hodes; Stephen R Dlouhy
Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
American journal of medical genetics 1995;58(1):70-3.
1995: T Foroud; Eric R Siemers; D Kleindorfer; D J Bill; ME Hodes; J A Norton; P M Conneally; Joe C Christian
Cognitive scores in carriers of Huntington's disease gene compared to noncarriers.
Annals of neurology 1995;37(5):657-64.
1995: D O Kleindorfer; Stephen R Dlouhy; V M Pratt; M C Jones; J A Trofatter; ME Hodes
In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
American journal of medical genetics 1995;55(4):405-7.
1995: V M Pratt; Simeon Boyd; Stephen R Dlouhy; K Silver; V M Der Kaloustian; ME Hodes
Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
American journal of medical genetics 1995;55(4):402-4.
1995: ME Hodes; W E DeMyer; V M Pratt; M K Edwards; Stephen R Dlouhy
Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
American journal of medical genetics 1995;55(4):397-401.
1995: V M Pratt; Stephen R Dlouhy; ME Hodes
Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
Clinical genetics 1995;47(2):99-100.
1995: V M Pratt; Sakkubai Naidu; Stephen R Dlouhy; H G Marks; ME Hodes
A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Neurology 1995;45(2):394-5.
1994: ME Hodes; Stephen R Dlouhy; J J Wei; Y Wang; L Sangameswaran; V Lazar; Lazaros C Triarhou; Bernardino Ghetti
cDNA approaches to isolation of the mouse mutant weaver gene.
Neurochemical research 1994;19(11):1359-62.
1994: J Wei; Stephen R Dlouhy; J Zhu; Bernardino Ghetti; ME Hodes
Analysis of region-specific library constructed by sequence-independent amplification of microdissected fragments surrounding weaver (wv) gene on mouse chromosome 16.
Somatic cell and molecular genetics 1994;20(5):401-8.
1994: S Beiraghi; T Foroud; S Diouhy; D Bixler; P M Conneally; D Delozier-Blanchet; ME Hodes
Possible localization of a major gene for cleft lip and palate to 4q.
Clinical genetics 1994;46(3):255-6.
1994: M Kambouris; L Sangameswaran; Lazaros C Triarhou; C A Kozak; Stephen R Dlouhy; Bernardino Ghetti; ME Hodes
Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain.
Brain research. Molecular brain research 1994;25(3-4):192-9.
1994: M Kambouris; Lazaros C Triarhou; Stephen R Dlouhy; L Sangameswaran; F Luo; Bernardino Ghetti; ME Hodes
Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library.
Brain research. Molecular brain research 1994;25(3-4):183-91.
1993: M Kambouris; L Sangameswaran; Stephen R Dlouhy; ME Hodes; Bernardino Ghetti; Lazaros C Triarhou
Cellular distribution of the RNA transcripts of a newly discovered gene in the brain of normal, weaver, Purkinje cell degeneration and reeler mutant mice as evidenced by in situ hybridization histochemistry.
Brain research. Molecular brain research 1993;18(4):321-8.
1993: V M Pratt; J R Kiefer; J Lähdetie; J Schleutker; ME Hodes; Stephen R Dlouhy
Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
American journal of human genetics 1993;52(6):1053-6.
1993: ME Hodes; V M Pratt; Stephen R Dlouhy
Genetics of Pelizaeus-Merzbacher disease.
Developmental neuroscience 1993;15(6):383-94.
1992: M A Davee; CA Moore; MJ Bull; ME Hodes
Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay.
American journal of medical genetics 1992;44(3):293-6.
1992: K Young; T Foroud; P Williams; C E Jackson; Jacques Beckmann; D Cohen; P M Conneally; Jay A Tischfield; ME Hodes
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.
Genomics 1992;13(4):1370-1.
1992: V M Pratt; J A Trofatter; M B Larsen; ME Hodes; Stephen R Dlouhy
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
American journal of medical genetics 1992;43(3):642-6.
1992: Karen K. Hsiao Ashe; Stephen R Dlouhy; Martin R Farlow; C Cass; M Da Costa; P M Conneally; ME Hodes; Bernardino Ghetti; Stanley B Prusiner
Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
Nature genetics 1992;1(1):68-71.
1992: Stephen R Dlouhy; Karen K. Hsiao Ashe; Martin R Farlow; T Foroud; P M Conneally; P Johnson; Stanley B Prusiner; ME Hodes; Bernardino Ghetti
Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene.
Nature genetics 1992;1(1):64-7.
1991: J A Trofatter; V M Pratt; Stephen R Dlouhy; ME Hodes
AhaII polymorphism in human X-linked proteolipid protein gene (PLP).
Nucleic acids research 1991;19(21):6057.
1991: V M Pratt; J A Trofatter; A Schinzel; Stephen R Dlouhy; P M Conneally; ME Hodes
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
American journal of medical genetics 1991;38(1):136-9.
1989: J A Trofatter; Stephen R Dlouhy; W DeMyer; P M Conneally; ME Hodes
Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(23):9427-30.
1988: M Kambouris; Stephen R Dlouhy; J A Trofatter; P M Conneally; ME Hodes
Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.
American journal of medical genetics 1988;29(1):239-46.
1987: Martin R Farlow; W DeMyer; Stephen R Dlouhy; ME Hodes
X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis.
Neurology 1987;37(4):602-7.