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Eric Hoffman

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Chemicals & Drugs

Anatomy

Physiology

Living Beings

Mice
Infant

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Oligonucleotide Array Sequence Analysis

Procedures

Polymerase Chain Reaction

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Publications

TOP 3
Baudy Andreas R; Saxena Nandita; Gordish Heather; Hoffman Eric P; Nagaraju Kanneboyina
A robust in vitro screening assay to identify NF-kappaB inhibitors for inflammatory muscle diseases.
Devaney Joseph M; Tosi Laura L; Fritz David T; Gordish-Dressman Heather A; Jiang Shan; Orkunoglu-Suer Funda E; Gordon Andrew H; Harmon Brennan T; Thompson Paul D; Clarkson Priscilla M; Angelopoulos Theodore J; Gordon Paul M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Brandoli Cinzia; Hoffman Eric P; Rogers Melissa B
Differences in fat and muscle mass associated with a functional human polymorphism in a post-transcriptional BMP2 gene regulatory element.
Kesari Akanchha; Neel Robert; Wagoner Lynne; Harmon Brennan; Spurney Christopher; Hoffman Eric P
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

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All Publications

2009: Baudy Andreas R; Saxena Nandita; Gordish Heather; Hoffman Eric P; Nagaraju Kanneboyina
A robust in vitro screening assay to identify NF-kappaB inhibitors for inflammatory muscle diseases.
International immunopharmacology 2009;9(10):1209-14.
2009: Devaney Joseph M; Tosi Laura L; Fritz David T; Gordish-Dressman Heather A; Jiang Shan; Orkunoglu-Suer Funda E; Gordon Andrew H; Harmon Brennan T; Thompson Paul D; Clarkson Priscilla M; Angelopoulos Theodore J; Gordon Paul M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Brandoli Cinzia; Hoffman Eric P; Rogers Melissa B
Differences in fat and muscle mass associated with a functional human polymorphism in a post-transcriptional BMP2 gene regulatory element.
Journal of cellular biochemistry 2009;107(6):1073-82.
2009: Kesari Akanchha; Neel Robert; Wagoner Lynne; Harmon Brennan; Spurney Christopher; Hoffman Eric P
Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.
American journal of medical genetics. Part A 2009;149A(7):1499-503.
2009: Kostek Matthew A; Angelopoulos Theodore J; Clarkson Priscilla M; Gordon Paul M; Moyna Niall M; Visich Paul S; Zoeller Robert F; Price Thomas B; Seip Richard L; Thompson Paul D; Devaney Joseph M; Gordish-Dressman Heather; Hoffman Eric P; Pescatello Linda S
Myostatin and follistatin polymorphisms interact with muscle phenotypes and ethnicity.
Medicine and science in sports and exercise 2009;41(5):1063-71.
2009: Spurney Christopher F; Gordish-Dressman Heather; Guerron Alfredo D; Sali Arpana; Pandey Gouri S; Rawat Rashmi; Van Der Meulen Jack H; Cha Hee-Jae; Pistilli Emidio E; Partridge Terence A; Hoffman Eric P; Nagaraju Kanneboyina
Preclinical drug trials in the mdx mouse: assessment of reliable and sensitive outcome measures.
Muscle & nerve 2009;39(5):591-602.
2009: Yu Ji-Guo; Sewright Kimberly; Hubal Monica J; Liu Jing-Xia; Schwartz Lawrence M; Hoffman Eric P; Clarkson Priscilla M
Investigation of gene expression in C(2)C(12) myotubes following simvastatin application and mechanical strain.
Journal of atherosclerosis and thrombosis 2009;16(1):21-9.
2009: Freishtat Robert J; Natale Joanne; Benton Angela S; Cohen Joanna; Sharron Matthew; Wiles Andrew A; Ngor Wai-Man; Mojgani Bahar; Bradbury Margaret; Degnan Andrew; Sachdeva Reecha; Debiase Lindsay M; Ghimbovschi Svetlana; Chow Matthew; Bunag Clarice; Kristosturyan Ervand; Hoffman Eric P
Sepsis alters the megakaryocyte-platelet transcriptional axis resulting in granzyme B-mediated lymphotoxicity.
American journal of respiratory and critical care medicine 2009;179(6):467-73.
2009: Yokota Toshifumi; Takeda Shin'ichi; Lu Qi-Long; Partridge Terence A; Nakamura Akinori; Hoffman Eric P
A renaissance for antisense oligonucleotide drugs in neurology: exon skipping breaks new ground.
Archives of neurology 2009;66(1):32-8.
2009: Reeves Erica Km; Gordish-Dressman Heather; Hoffman Eric P; Hathout Yetrib
Proteomic profiling of glucocorticoid-exposed myogenic cells: Time series assessment of protein translocation and transcription of inactive mRNAs.
Proteome science 2009;7():26.
2008: Kesari Akanchha; Fukuda Mitsunori; Knoblach Susan; Bashir Rumaisa; Nader Gustavo A; Rao Deepak; Nagaraju Kanneboyina; Hoffman Eric P
Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.
The American journal of pathology 2008;173(5):1476-87.
2008: Zoeller Robert F; Ryan Eric D; Gordish-Dressman Heather; Price Thomas B; Seip Richard L; Angelopoulos Theodore J; Moyna Niall M; Gordon Paul M; Thompson Paul D; Hoffman Eric P
Allometric scaling of isometric biceps strength in adult females and the effect of body mass index.
European journal of applied physiology 2008;104(4):701-10.
2008: Pistilli Emidio E; Devaney Joseph M; Gordish-Dressman Heather; Bradbury Margaret K; Seip Richard L; Thompson Paul D; Angelopoulos Theodore J; Clarkson Priscilla M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Gordon Paul M; Hoffman Eric P
Interleukin-15 and interleukin-15R alpha SNPs and associations with muscle, bone, and predictors of the metabolic syndrome.
Cytokine 2008;43(1):45-53.
2008: Vanderver A; Hathout Y; Maletkovic J; Gordon E S; Mintz M; Timmons M; Hoffman E P; Horzinski L; Niel F; Fogli A; Boespflug-Tanguy O; Schiffmann R
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder.
Neurology 2008;70(23):2226-32.
2008: Mintz Michelle; Vanderver Adeline; Brown Kristy J; Lin Joseph; Wang Zuyi; Kaneski Christine; Schiffmann Raphael; Nagaraju Kanneboyina; Hoffman Eric P; Hathout Yetrib
Time series proteome profiling to study endoplasmic reticulum stress response.
Journal of proteome research 2008;7(6):2435-44.
2008: Fulco Marcella; Cen Yana; Zhao Po; Hoffman Eric P; McBurney Michael W; Sauve Anthony A; Sartorelli Vittorio
Glucose restriction inhibits skeletal myoblast differentiation by activating SIRT1 through AMPK-mediated regulation of Nampt.
Developmental cell 2008;14(5):661-73.
2008: Spurney Christopher F; Knoblach Susan; Pistilli Emidio E; Nagaraju Kanneboyina; Martin Gerard R; Hoffman Eric P
Dystrophin-deficient cardiomyopathy in mouse: expression of Nox4 and Lox are associated with fibrosis and altered functional parameters in the heart.
Neuromuscular disorders : NMD 2008;18(5):371-81.
2008: Kesari Akanchha; Pirra Laura N; Bremadesam Lakshmi; McIntyre Orinthal; Gordon Erynn; Dubrovsky Alberto L; Viswanathan V; Hoffman Eric P
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.
Human mutation 2008;29(5):728-37.
2008: Nagaraju Kanneboyina; Rawat Rashmi; Veszelovszky Edina; Thapliyal Rachana; Kesari Akanchha; Sparks Susan; Raben Nina; Plotz Paul; Hoffman Eric P
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.
The American journal of pathology 2008;172(3):774-85.
2008: Lichter-Konecki Uta; Mangin Jean Marie; Gordish-Dressman Heather; Hoffman Eric P; Gallo Vittorio
Gene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.
Glia 2008;56(4):365-77.
2008: Maletkovic Jelena; Schiffmann Raphael; Gorospe J Rafael; Gordon Erynn S; Mintz Michelle; Hoffman Eric P; Alper Gulay; Lynch David R; Singhal Bhim S; Harding Cary; Amartino Hernan; Brown Candida M; Chan Alicia; Renaud Deborah; Geraghty Michael; Jensen Lloyd; Senbil Nesrin; Kadom Nadja; Nazarian Javad; Yuanjian Feng; Zuyi Wang; Hartka Thomas; Morizono Hiroki; Vanderver Adeline
Genetic and clinical heterogeneity in eIF2B-related disorder.
Journal of child neurology 2008;23(2):205-15.
2008: Yao Zhenling; Hoffman Eric P; Ghimbovschi Svetlana; Dubois Debra C; Almon Richard R; Jusko William J
Pharmacodynamic/Pharmacogenomic modeling of insulin resistance genes in rat muscle after methylprednisolone treatment: exploring regulatory signaling cascades.
Gene regulation and systems biology : 2008;2():141-61.
2008: Orkunoglu-Suer Funda E; Gordish-Dressman Heather; Clarkson Priscilla M; Thompson Paul D; Angelopoulos Theodore J; Gordon Paul M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Harmon Brennan; Seip Richard L; Hoffman Eric P; Devaney Joseph M
INSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men.
BMC medical genetics 2008;9():117.
2007: Di Padova Monica; Caretti Giuseppina; Zhao Po; Hoffman Eric P; Sartorelli Vittorio
MyoD acetylation influences temporal patterns of skeletal muscle gene expression.
The Journal of biological chemistry 2007;282(52):37650-9.
2007: Kostek Matthew A; Pescatello Linda S; Seip Richard L; Angelopoulos Theodore J; Clarkson Priscilla M; Gordon Paul M; Moyna Niall M; Visich Paul S; Zoeller Robert F; Thompson Paul D; Hoffman Eric P; Price Thomas B
Subcutaneous fat alterations resulting from an upper-body resistance training program.
Medicine and science in sports and exercise 2007;39(7):1177-85.
2007: Zoeller Robert F; Ryan Eric D; Gordish-Dressman Heather; Price Thomas B; Seip Richard L; Angelopoulos Theodore J; Moyna Niall M; Gordon Paul M; Thompson Paul D; Hoffman Eric P
Allometric scaling of biceps strength before and after resistance training in men.
Medicine and science in sports and exercise 2007;39(6):1013-9.
2007: Pescatello Linda S; Kelsey Bethany K; Price Thomas B; Seip Richard L; Angelopoulos Theodore J; Clarkson Priscilla M; Gordon Paul M; Moyna Niall M; Visich Paul S; Zoeller Robert F; Gordish-Dressman Heather A; Bilbie Stephen M; Thompson Paul D; Hoffman Eric P
The muscle strength and size response to upper arm, unilateral resistance training among adults who are overweight and obese.
Journal of strength and conditioning research / National Strength & Conditioning Association 2007;21(2):307-13.
2007: Devaney Joseph M; Hoffman Eric P; Gordish-Dressman Heather; Kearns Amy; Zambraski Edward; Clarkson Priscilla M
IGF-II gene region polymorphisms related to exertional muscle damage.
Journal of applied physiology (Bethesda, Md. : 1985) 2007;102(5):1815-23.
2007: Massaro Donald; Alexander Emma; Reiland Kristin; Hoffman Eric P; Massaro Gloria DeCarlo; Clerch Linda Biadasz
Rapid onset of gene expression in lung, supportive of formation of alveolar septa, induced by refeeding mice after calorie restriction.
American journal of physiology. Lung cellular and molecular physiology 2007;292(5):L1313-26.
2007: Nazarian Javad; Hathout Yetrib; Vertes Akos; Hoffman Eric P
The proteome survey of an electricity-generating organ (Torpedo californica electric organ).
Proteomics 2007;7(4):617-27.
2007: Pistilli Emidio E; Gordish-Dressman Heather; Seip Richard L; Devaney Joseph M; Thompson Paul D; Price Thomas B; Angelopoulos Theodore J; Clarkson Priscilla M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Hoffman Eric P; Gordon Paul M
Resistin polymorphisms are associated with muscle, bone, and fat phenotypes in white men and women.
Obesity (Silver Spring, Md.) 2007;15(2):392-402.
2007: Dressman Devin; Ahearn Mary Ellen; Yariz Kemal O; Basterrecha Hugo; Martínez Francisco; Palau Francesc; Barmada M Michael; Clark Robin Dawn; Meindl Alfons; Wirth Brunhilde; Hoffman Eric P; Baumbach-Reardon Lisa
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(1):52-60.
2007: Hittel Dustin S; Hathout Yetrib; Hoffman Eric P
Proteomics and systems biology in exercise and sport sciences research.
Exercise and sport sciences reviews 2007;35(1):5-11.
2007: Freishtat Robert J; Mojgani Bahar; Nazemzadeh Maryam; Nagaraju Kanneboyina; Hoffman Eric P
NKG2A inhibits TH2 cell effector function in vitro.
BMC pulmonary medicine 2007;7():14.
2007: Uthurralt Julieta; Gordish-Dressman Heather; Bradbury Meg; Tesi-Rocha Carolina; Devaney Joseph; Harmon Brennan; Reeves Erica K; Brandoli Cinzia; Hansen Barbara C; Seip Richard L; Thompson Paul D; Price Thomas B; Angelopoulos Theodore J; Clarkson Priscilla M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Gordon Paul M; Hoffman Eric P
PPARalpha L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males.
BMC medical genetics 2007;8():55.
2006: An Eunkyung; Lu Xiaoning; Flippin Jessica; Devaney Joseph M; Halligan Brian; Hoffman Eric P; Strunnikova Nataly; Csaky Karl; Hathout Yetrib
Secreted proteome profiling in human RPE cell cultures derived from donors with age related macular degeneration and age matched healthy donors.
Journal of proteome research 2006;5(10):2599-610.
2006: Caretti Giuseppina; Schiltz R Louis; Dilworth F Jeffrey; Di Padova Monica; Zhao Po; Ogryzko Vasily; Fuller-Pace Frances V; Hoffman Eric P; Tapscott Stephen J; Sartorelli Vittorio
The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation.
Developmental cell 2006;11(4):547-60.
2006: Bonifati D M; Witchel S F; Ermani M; Hoffman E P; Angelini C; Pegoraro E
The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy.
Journal of neurology, neurosurgery, and psychiatry 2006;77(10):1177-9.
2006: Park Jung-Jun; Berggren Jason R; Hulver Matthew W; Houmard Joseph A; Hoffman Eric P
GRB14, GPD1, and GDF8 as potential network collaborators in weight loss-induced improvements in insulin action in human skeletal muscle.
Physiological genomics 2006;27(2):114-21.
2006: Pescatello Linda S; Kostek Matthew A; Gordish-Dressman Heather; Thompson Paul D; Seip Richard L; Price Thomas B; Angelopoulos Theodore J; Clarkson Priscilla M; Gordon Paul M; Moyna Niall M; Visich Paul S; Zoeller Robert F; Devaney Joseph M; Hoffman Eric P
ACE ID genotype and the muscle strength and size response to unilateral resistance training.
Medicine and science in sports and exercise 2006;38(6):1074-81.
2006: Hoffman Eric P; Escolar Diana
Translating mighty mice into neuromuscular therapeutics: is bigger muscle better?
The American journal of pathology 2006;168(6):1775-8.
2006: Zhao Po; Hoffman Eric P
Musculin isoforms and repression of MyoD in muscle regeneration.
Biochemical and biophysical research communications 2006;342(3):835-42.
2006: Bakay Marina; Wang Zuyi; Melcon Gisela; Schiltz Louis; Xuan Jianhua; Zhao Po; Sartorelli Vittorio; Seo Jinwook; Pegoraro Elena; Angelini Corrado; Shneiderman Ben; Escolar Diana; Chen Yi-Wen; Winokur Sara T; Pachman Lauren M; Fan Chenguang; Mandler Raul; Nevo Yoram; Gordon Erynn; Zhu Yitan; Dong Yibin; Wang Yue; Hoffman Eric P
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.
Brain : a journal of neurology 2006;129(Pt 4):996-1013.
2006: Seo Jinwook; Gordish-Dressman Heather; Hoffman Eric P
An interactive power analysis tool for microarray hypothesis testing and generation.
Bioinformatics (Oxford, England) 2006;22(7):808-14.
2006: Wang Zuyi; Wang Yue; Xuan Jianhua; Dong Yibin; Bakay Marina; Feng Yuanjian; Clarke Robert; Hoffman Eric P
Optimized multilayer perceptrons for molecular classification and diagnosis using genomic data.
Bioinformatics (Oxford, England) 2006;22(6):755-61.
2006: Byrnes Kimberly R; Garay Jorge; Di Giovanni Simone; De Biase Andrea; Knoblach Susan M; Hoffman Eric P; Movsesyan Vilen; Faden Alan I
Expression of two temporally distinct microglia-related gene clusters after spinal cord injury.
Glia 2006;53(4):420-33.
2006: Melcon Gisela; Kozlov Serguei; Cutler Dedra A; Sullivan Terry; Hernandez Lidia; Zhao Po; Mitchell Stephanie; Nader Gustavo; Bakay Marina; Rottman Jeff N; Hoffman Eric P; Stewart Colin L
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration.
Human molecular genetics 2006;15(4):637-51.
2006: Molon Annamaria; Di Giovanni Simone; Hathout Yetrib; Natale Joanne; Hoffman Eric P
Functional recovery of glycine receptors in spastic murine model of startle disease.
Neurobiology of disease 2006;21(2):291-304.
2006: Hamed Sherifa Ahmed; Hoffman Eric P
Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006;141B(1):44-50.
2006: Zhao Po; Caretti Giuseppina; Mitchell Stephanie; McKeehan Wallace L; Boskey Adele L; Pachman Lauren M; Sartorelli Vittorio; Hoffman Eric P
Fgfr4 is required for effective muscle regeneration in vivo. Delineation of a MyoD-Tead2-Fgfr4 transcriptional pathway.
The Journal of biological chemistry 2006;281(1):429-38.
2006: Seo Jinwook; Hoffman Eric P
Probe set algorithms: is there a rational best bet?
BMC bioinformatics 2006;7():395.
2006: Lamason Rebecca; Zhao Po; Rawat Rashmi; Davis Adrian; Hall John C; Chae Jae Jin; Agarwal Rajeev; Cohen Phillip; Rosen Antony; Hoffman Eric P; Nagaraju Kanneboyina
Sexual dimorphism in immune response genes as a function of puberty.
BMC immunology 2006;7():2.
2005: Urso Maria L; Clarkson Priscilla M; Hittel Dustin; Hoffman Eric P; Thompson Paul D
Changes in ubiquitin proteasome pathway gene expression in skeletal muscle with exercise and statins.
Arteriosclerosis, thrombosis, and vascular biology 2005;25(12):2560-6.
2005: Vanderver Adeline; Schiffmann Raphael; Timmons Margaret; Kellersberger Katherine A; Fabris Dan; Hoffman Eric P; Maletkovic Jelena; Hathout Yetrib
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease.
Clinical chemistry 2005;51(11):2031-42.
2005: Hulver Matthew W; Berggren Jason R; Carper Michael J; Miyazaki Makoto; Ntambi James M; Hoffman Eric P; Thyfault John P; Stevens Robert; Dohm G Lynis; Houmard Joseph A; Muoio Deborah M
Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans.
Cell metabolism 2005;2(4):251-61.
2005: Gordon Erynn S; Gordish Dressman Heather A; Hoffman Eric P
The genetics of muscle atrophy and growth: the impact and implications of polymorphisms in animals and humans.
The international journal of biochemistry & cell biology 2005;37(10):2064-74.
2005: Chen Y-W; Nagaraju K; Bakay M; McIntyre O; Rawat R; Shi R; Hoffman E P
Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy.
Neurology 2005;65(6):826-34.
2005: Gordon Erynn S; Gordish-Dressman Heather A; Devaney Joseph; Clarkson Priscilla; Thompson Paul; Gordon Paul; Pescatello Linda S; Hubal Monica J; Pistilli Emidio E; Gianetti Gary; Kelsey Bethany; Hoffman Eric P
Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales.
European journal of human genetics : EJHG 2005;13(9):1047-54.
2005: De Biase Andrea; Knoblach Susan M; Di Giovanni Simone; Fan Chenguang; Molon Annamaria; Hoffman Eric P; Faden Alan I
Gene expression profiling of experimental traumatic spinal cord injury as a function of distance from impact site and injury severity.
Physiological genomics 2005;22(3):368-81.
2005: Clarkson Priscilla M; Hoffman Eric P; Zambraski Edward; Gordish-Dressman Heather; Kearns Amy; Hubal Monica; Harmon Brennan; Devaney Joseph M
ACTN3 and MLCK genotype associations with exertional muscle damage.
Journal of applied physiology (Bethesda, Md. : 1985) 2005;99(2):564-9.
2005: Clarkson Priscilla M; Devaney Joseph M; Gordish-Dressman Heather; Thompson Paul D; Hubal Monica J; Urso Maria; Price Thomas B; Angelopoulos Theodore J; Gordon Paul M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Seip Richard L; Hoffman Eric P
ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.
Journal of applied physiology (Bethesda, Md. : 1985) 2005;99(1):154-63.
2005: Hubal Monica J; Gordish-Dressman Heather; Thompson Paul D; Price Thomas B; Hoffman Eric P; Angelopoulos Theodore J; Gordon Paul M; Moyna Niall M; Pescatello Linda S; Visich Paul S; Zoeller Robert F; Seip Richard L; Clarkson Priscilla M
Variability in muscle size and strength gain after unilateral resistance training.
Medicine and science in sports and exercise 2005;37(6):964-72.
2005: Wu Fen-fen; Gordon Erynn; Hoffman Eric P; Cannon Stephen C
A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
The Journal of physiology 2005;565(Pt 2):371-80.
2005: Hittel Dustin S; Hathout Yetrib; Hoffman Eric P; Houmard Joseph A
Proteome analysis of skeletal muscle from obese and morbidly obese women.
Diabetes 2005;54(5):1283-8.
2005: Di Giovanni Simone; Faden Alan I; Yakovlev Alexander; Duke-Cohan Jonathan S; Finn Tom; Thouin Melissa; Knoblach Susan; De Biase Andrea; Bregman Barbara S; Hoffman Eric P
Neuronal plasticity after spinal cord injury: identification of a gene cluster driving neurite outgrowth.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(1):153-4.
2005: Di Giovanni Simone; De Biase Andrea; Yakovlev Alexander; Finn Tom; Beers Jeanette; Hoffman Eric P; Faden Alan I
In vivo and in vitro characterization of novel neuronal plasticity factors identified following spinal cord injury.
The Journal of biological chemistry 2005;280(3):2084-91.
2005: Hittel Dustin S; Kraus William E; Tanner Chuck J; Houmard Joseph A; Hoffman Eric P
Exercise training increases electron and substrate shuttling proteins in muscle of overweight men and women with the metabolic syndrome.
Journal of applied physiology (Bethesda, Md. : 1985) 2005;98(1):168-79.
2004: Seo Jinwook; Bakay Marina; Chen Yi-Wen; Hilmer Sara; Shneiderman Ben; Hoffman Eric P
Interactively optimizing signal-to-noise ratios in expression profiling: project-specific algorithm selection and detection p-value weighting in Affymetrix microarrays.
Bioinformatics (Oxford, England) 2004;20(16):2534-44.
2004: Klein Sabra L; Cernetich Amy; Hilmer Sara; Hoffman Eric P; Scott Alan L; Glass Gregory E
Differential expression of immunoregulatory genes in male and female Norway rats following infection with Seoul virus.
Journal of medical virology 2004;74(1):180-90.
2004: Thompson Paul D; Moyna Niall; Seip Richard; Price Thomas; Clarkson Priscilla; Angelopoulos Theodore; Gordon Paul; Pescatello Linda; Visich Paul; Zoeller Robert; Devaney Joseph M; Gordish Heather; Bilbie Stephen; Hoffman Eric P
Functional polymorphisms associated with human muscle size and strength.
Medicine and science in sports and exercise 2004;36(7):1132-9.
2004: Iezzi Simona; Di Padova Monica; Serra Carlo; Caretti Giuseppina; Simone Cristiano; Maklan Eric; Minetti Giulia; Zhao Po; Hoffman Eric P; Puri Pier Lorenzo; Sartorelli Vittorio
Deacetylase inhibitors increase muscle cell size by promoting myoblast recruitment and fusion through induction of follistatin.
Developmental cell 2004;6(5):673-84.
2004: Massaro Donald; Massaro Gloria DeCarlo; Baras Alex; Hoffman Eric P; Clerch Linda Biadasz
Calorie-related rapid onset of alveolar loss, regeneration, and changes in mouse lung gene expression.
American journal of physiology. Lung cellular and molecular physiology 2004;286(5):L896-906.
2004: Molon A; Di Giovanni S; Chen Y W; Clarkson P M; Angelini C; Pegoraro E; Hoffman E P
Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle.
Neurology 2004;62(7):1097-104.
2004: Gorospe J R; Singhal B S; Kainu T; Wu F; Stephan D; Trent J; Hoffman E P; Naidu S
Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.
Neurology 2004;62(6):878-82.
2004: Di Giovanni Simone; Molon Annamaria; Broccolini Aldobrando; Melcon Gisela; Mirabella Massimiliano; Hoffman Eric P; Servidei Serenella
Constitutive activation of MAPK cascade in acute quadriplegic myopathy.
Annals of neurology 2004;55(2):195-206.
2004: Zhao Po; Hoffman Eric P
Embryonic myogenesis pathways in muscle regeneration.
Developmental dynamics : an official publication of the American Association of Anatomists 2004;229(2):380-92.
2004: Clerch Linda Biadasz; Baras Alex S; Massaro Gloria DeCarlo; Hoffman Eric P; Massaro Donald
DNA microarray analysis of neonatal mouse lung connects regulation of KDR with dexamethasone-induced inhibition of alveolar formation.
American journal of physiology. Lung cellular and molecular physiology 2004;286(2):L411-9.
2004: Chen Josephine; Zhao Po; Massaro Donald; Clerch Linda B; Almon Richard R; DuBois Debra C; Jusko William J; Hoffman Eric P
The PEPR GeneChip data warehouse, and implementation of a dynamic time series query tool (SGQT) with graphical interface.
Nucleic acids research 2004;32(Database issue):D578-81.
2003: Chen Yi-Wen; Hubal Monica J; Hoffman Eric P; Thompson Paul D; Clarkson Priscilla M
Molecular responses of human muscle to eccentric exercise.
Journal of applied physiology (Bethesda, Md. : 1985) 2003;95(6):2485-94.
2003: Hoffman Eric P; Brown Kristy J; Eccleston Eric
New molecular research technologies in the study of muscle disease.
Current opinion in rheumatology 2003;15(6):698-707.
2003: Zhao Po; Seo Jinwook; Wang Zuyi; Wang Yue; Shneiderman Ben; Hoffman Eric P
In vivo filtering of in vitro expression data reveals MyoD targets.
Comptes rendus biologies 2003;326(10-11):1049-65.
2003: Ronnett Gabriele V; Leopold Donald; Cai Xiaohe; Hoffbuhr Kristen C; Moses Linda; Hoffman Eric P; Naidu Sakkubai
Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome.
Annals of neurology 2003;54(2):206-18.
2003: Hoffman Eric P; DuBois Debra C; Hoffman Ruth I; Almon Richard R
Expression profiling and pharmacogenomics of muscle and muscle disease.
Current opinion in pharmacology 2003;3(3):309-16.
2003: Cappola Thomas P; Cope Leslie; Cernetich Amy; Barouch Lili A; Minhas Khalid; Irizarry Rafael A; Parmigiani Giovanni; Durrani Sarfraz; Lavoie Tera; Hoffman Eric P; Ye Shui Q; Garcia Joe G N; Hare Joshua M
Deficiency of different nitric oxide synthase isoforms activates divergent transcriptional programs in cardiac hypertrophy.
Physiological genomics 2003;14(1):25-34.
2003: Thistlethwaite William A; Moses Linda M; Hoffbuhr Kristen C; Devaney Joseph M; Hoffman Eric P
Rapid genotyping of common MeCP2 mutations with an electronic DNA microchip using serial differential hybridization.
The Journal of molecular diagnostics : JMD 2003;5(2):121-6.
2003: Di Giovanni Simone; Knoblach Susan M; Brandoli Cinzia; Aden Sadia A; Hoffman Eric P; Faden Alan I
Gene profiling in spinal cord injury shows role of cell cycle in neuronal death.
Annals of neurology 2003;53(4):454-68.
2003: Hittel Dustin S; Kraus William E; Hoffman Eric P
Skeletal muscle dictates the fibrinolytic state after exercise training in overweight men with characteristics of metabolic syndrome.
The Journal of physiology 2003;548(Pt 2):401-10.
2003: Tezak Zivana; Prandini Paola; Boscaro Marco; Marin Alessandra; Devaney Joseph; Marino Michael; Fanin Marina; Trevisan Carlo P; Park Julie; Tyson Weslie; Finkel R; Garcia Carlos; Angelini Corrado; Hoffman Eric P; Pegoraro Elena
Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.
Human mutation 2003;21(2):103-11.
2002: Hoffman Eric P; Rao Deepak; Pachman Lauren M
Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays.
Rheumatic diseases clinics of North America 2002;28(4):743-57.
2002: Chen Yi-Wen; Nader Gustavo A; Baar Keith R; Fedele Mark J; Hoffman Eric P; Esser Karyn A
Response of rat muscle to acute resistance exercise defined by transcriptional and translational profiling.
The Journal of physiology 2002;545(Pt 1):27-41.
2002: Wu Fen-Fen; Ryan Aisling; Devaney Joseph; Warnstedt Maike; Korade-Mirnics Zeljka; Poser Barbara; Escriva Maria Jose; Pegoraro Elena; Yee Audrey S; Felice Kevin J; Giuliani Michael J; Mayer Richard F; Mongini Tiziana; Palmucci Laura; Marino Michael; Rüdel Reinhardt; Hoffman Eric P; Fahlke Christoph
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Brain : a journal of neurology 2002;125(Pt 11):2392-407.
2002: Escolar Diana M; Henricson Erik K; Pasquali Livia; Gorni Ksenija; Hoffman Eric P
Collaborative translational research leading to multicenter clinical trials in Duchenne muscular dystrophy: the Cooperative International Neuromuscular Research Group (CINRG).
Neuromuscular disorders : NMD 2002;12 Suppl 1():S147-154.
2002: Dressman D; Araishi K; Imamura M; Sasaoka T; Liu L A; Engvall E; Hoffman E P
Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity.
Human gene therapy 2002;13(13):1631-46.
2002: Watchko Jon F; O'Day Terrence L; Hoffman Eric P
Functional characteristics of dystrophic skeletal muscle: insights from animal models.
Journal of applied physiology (Bethesda, Md. : 1985) 2002;93(2):407-17.
2002: Zhao Po; Iezzi Simona; Carver Ethan; Dressman Devin; Gridley Thomas; Sartorelli Vittorio; Hoffman Eric P
Slug is a novel downstream target of MyoD. Temporal profiling in muscle regeneration.
The Journal of biological chemistry 2002;277(33):30091-101.
2002: Pegoraro Elena; Cepollaro Fulvio; Prandini Paola; Marin Alessandra; Fanin Marina; Trevisan Carlo P; El-Messlemani Abdul Hassib; Tarone Guido; Engvall Eva; Hoffman Eric P; Angelini Corrado
Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.
The American journal of pathology 2002;160(6):2135-43.
2002: Walgenbach Klaus J; Gorospe J Rafael; Gratas Catherine; Brunagel Gisela; Hoffman Eric P; Shestak Kenneth C
A potential role for mast cells in the of bFGF from normal myocytes during angiogenesis in vivo.
Journal of investigative surgery : the official journal of the Academy of Surgical Research 2002;15(3):153-62.
2002: Gorospe J R; Naidu S; Johnson A B; Puri V; Raymond G V; Jenkins S D; Pedersen R C; Lewis D; Knowles P; Fernandez R; De Vivo D; van der Knaap M S; Messing A; Brenner M; Hoffman E P
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
Neurology 2002;58(10):1494-500.
2002: Mongini T; Doriguzzi C; Bosone I; Chiadò-Piat L; Hoffman E P; Palmucci L
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria.
Neuropediatrics 2002;33(2):109-11.
2002: Tezak Zivana; Hoffman Eric P; Lutz Jennica L; Fedczyna Tamara O; Stephan Dietrich; Bremer Eric G; Krasnoselska-Riz Irina; Kumar Ajit; Pachman Lauren M
Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis.
Journal of immunology (Baltimore, Md. : 1950) 2002;168(8):4154-63.
2002: Scacheri P C; Gillanders E M; Subramony S H; Vedanarayanan V; Crowe C A; Thakore N; Bingler M; Hoffman E P
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Neurology 2002;58(4):593-602.
2002: Hoffman Eric P; Chen Yi-Wen
Genetic medicine and the muscular dystrophies: triumphs and tribulations.
Developmental medicine and child neurology 2002;44(2):136-40.
2002: Borup Rehannah H A; Toppo Stefano; Chen Yi-Wen; Teslovich Tanya M; Lanfranchi Gerolamo; Valle Giorgio; Hoffman Eric P
Development and production of an oligonucleotide MuscleChip: use for validation of ambiguous ESTs.
BMC bioinformatics 2002;3():33.
2002: Hoffbuhr K C; Moses L M; Jerdonek M A; Naidu S; Hoffman E P
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Mental retardation and developmental disabilities research reviews 2002;8(2):99-105.
2002: Bakay Marina; Chen Yi-Wen; Borup Rehannah; Zhao Po; Nagaraju Kanneboyina; Hoffman Eric P
Sources of variability and effect of experimental approach on expression profiling data interpretation.
BMC bioinformatics 2002;3():4.
2001: Gordon E S; Hoffman E P
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.
Current opinion in neurology 2001;14(5):567-73.
2001: Lanasa M C; Hogge W A; Kubik C J; Ness R B; Harger J; Nagel T; Prosen T; Markovic N; Hoffman E P
A novel X chromosome-linked genetic cause of recurrent spontaneous abortion.
American journal of obstetrics and gynecology 2001;185(3):563-8.
2001: Hoffman E P; Dressman D
Molecular pathophysiology and targeted therapeutics for muscular dystrophy.
Trends in pharmacological sciences 2001;22(9):465-70.
2001: Hoffbuhr K; Devaney J M; LaFleur B; Sirianni N; Scacheri C; Giron J; Schuette J; Innis J; Marino M; Philippart M; Narayanan V; Umansky R; Kronn D; Hoffman E P; Naidu S
MeCP2 mutations in children with and without the phenotype of Rett syndrome.
Neurology 2001;56(11):1486-95.
2001: Wu F F; Takahashi M P; Pegoraro E; Angelini C; Colleselli P; Cannon S C; Hoffman E P
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Neurology 2001;56(7):878-84.
2001: Draviam R; Billington L; Senchak A; Hoffman E P; Watkins S C
Confocal analysis of the dystrophin protein complex in muscular dystrophy.
Muscle & nerve 2001;24(2):262-72.
2000: Tezak Z; Nagaraju K; Plotz P; Hoffman E P
Adeno-associated virus in normal and myositis human skeletal muscle.
Neurology 2000;55(12):1913-7.
2000: Chen Y W; Zhao P; Borup R; Hoffman E P
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.
The Journal of cell biology 2000;151(6):1321-36.
2000: Scacheri P C; Hoffman E P; Fratkin J D; Semino-Mora C; Senchak A; Davis M R; Laing N G; Vedanarayanan V; Subramony S H
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.
Neurology 2000;55(11):1689-96.
2000: Pegoraro E; Fanin M; Trevisan C P; Angelini C; Hoffman E P
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.
Neurology 2000;55(8):1128-34.
2000: Liang K W; Hoffman E P; Huang L
Targeted delivery of plasmid DNA to myogenic cells via transferrin-conjugated peptide nucleic acid.
Molecular therapy : the journal of the American Society of Gene Therapy 2000;1(3):236-43.
2000: Watkins S C; Cullen M J; Hoffman E P; Billington L
Plasma membrane cytoskeleton of muscle: a fine structural analysis.
Microscopy research and technique 2000;48(3-4):131-41.
2000: Xiao X; Li J; Tsao Y P; Dressman D; Hoffman E P; Watchko J F
Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy.
Journal of virology 2000;74(3):1436-42.
2000: Fanin M; Hoffman E P; Angelini C; Pegoraro E
Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.
Human mutation 2000;16(1):13-7.
1999: Hoffman E P
Muscular dystrophy: identification and use of genes for diagnostics and therapeutics.
Archives of pathology & laboratory medicine 1999;123(11):1050-2.
1999: Scacheri P C; Garcia C; Hébert R; Hoffman E P
Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry.
American journal of medical genetics 1999;86(5):477-81.
1999: Akkaraju G R; Huard J; Hoffman E P; Goins W F; Pruchnic R; Watkins S C; Cohen J B; Glorioso J C
Herpes simplex virus vector-mediated dystrophin gene transfer and expression in MDX mouse skeletal muscle.
The journal of gene medicine 1999;1(4):280-9.
1999: Bouri K; Feero W G; Myerburg M M; Wickham T J; Kovesdi I; Hoffman E P; Clemens P R
Polylysine modification of adenoviral fiber protein enhances muscle cell transduction.
Human gene therapy 1999;10(10):1633-40.
1999: Martínez Murillo F; Kobayashi H; Pegoraro E; Galluzzi G; Creel G; Mariani C; Farina E; Ricci E; Alfonso G; Pauli R M; Hoffman E P
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
Neurology 1999;53(1):50-6.
1999: Pegoraro E; Fanin M; Angelini C; Hoffman E P
Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy.
Neuromuscular disorders : NMD 1999;9(5):323-5.
1999: Lanasa M C; Hogge W A; Kubik C; Blancato J; Hoffman E P
Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion.
American journal of human genetics 1999;65(1):252-4.
1999: Doriguzzi C; Palmucci L; Mongini T; Chiadò-Piat L; Saggiorato C; Ugo I; Hoffman E P
Variable histological expression of dystrophinopathy in two females.
Acta neuropathologica 1999;97(6):657-60.
1999: Korade-Mirnics Z; Tarleton J; Servidei S; Casey R R; Gennarelli M; Pegoraro E; Angelini C; Hoffman E P
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
Human molecular genetics 1999;8(6):1017-23.
1999: Tseng B S; Cavin S T; Hoffman E P; Iannaccone S T; Mancias P; Booth F W; Butler I J
Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies.
Genomics 1999;57(3):419-23.
1999: Melacini P; Fanin M; Duggan D J; Freda M P; Berardinelli A; Danieli G A; Barchitta A; Hoffman E P; Dalla Volta S; Angelini C
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
Muscle & nerve 1999;22(4):473-9.
1999: Lanasa M C; Hogge W A; Hoffman E P
Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.
American journal of human genetics 1999;64(4):934-8.
1999: Chou F L; Angelini C; Daentl D; Garcia C; Greco C; Hausmanowa-Petrusewicz I; Fidzianska A; Wessel H; Hoffman E P
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
Neurology 1999;52(5):1015-20.
1999: Stephan D A; Hoffman E P
Physical mapping of the rippling muscle disease locus.
Genomics 1999;55(3):268-74.
1999: Li J; Dressman D; Tsao Y P; Sakamoto A; Hoffman E P; Xiao X
rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy.
Gene therapy 1999;6(1):74-82.
1999: Angelini C; Fanin M; Freda M P; Duggan D J; Siciliano G; Hoffman E P
The clinical spectrum of sarcoglycanopathies.
Neurology 1999;52(1):176-9.
1998: Melacini P; Fanin M; Angelini A; Pegoraro E; Livi U; Danieli G A; Hoffman E P; Thiene G; Dalla Volta S; Angelini C
Cardiac transplantation in a Duchenne muscular dystrophy carrier.
Neuromuscular disorders : NMD 1998;8(8):585-90.
1998: Goldberg L R; Hausmanowa-Petrusewicz I; Fidzianska A; Duggan D J; Steinberg L S; Hoffman E P
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
Annals of neurology 1998;44(6):971-6.
1998: Witchel S F; Lee P A; Suda-Hartman M; Smith R; Hoffman E P
17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17.
Journal of pediatric and adolescent gynecology 1998;11(3):133-7.
1998: Pegoraro E; Marks H; Garcia C A; Crawford T; Mancias P; Connolly A M; Fanin M; Martinello F; Trevisan C P; Angelini C; Stella A; Scavina M; Munk R L; Servidei S; Bönnemann C C; Bertorini T; Acsadi G; Thompson C E; Gagnon D; Hoganson G; Carver V; Zimmerman R A; Hoffman E P
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Neurology 1998;51(1):101-10.
1998: Gardner K; Hoffman E P
Current status of genetic discoveries in migraine: familial hemiplegic migraine and beyond.
Current opinion in neurology 1998;11(3):211-6.
1998: Angelini C; Fanin M; Menegazzo E; Freda M P; Duggan D J; Hoffman E P
Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.
Muscle & nerve 1998;21(6):769-75.
1998: van Deutekom J C; Hoffman E P; Huard J
Muscle maturation: implications for gene therapy.
Molecular medicine today 1998;4(5):214-20.
1998: Washabaugh C H; Ontell M P; Shan Z; Hoffman E P; Ontell M
Role of the nerve in determining fetal skeletal muscle phenotype.
Developmental dynamics : an official publication of the American Association of Anatomists 1998;211(2):177-90.
1997: Witchel S F; Lee P A; Suda-Hartman M; Hoffman E P
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Biochemical and molecular medicine 1997;62(2):151-8.
1997: Fanin M; Duggan D J; Mostacciuolo M L; Martinello F; Freda M P; Sorarù G; Trevisan C P; Hoffman E P; Angelini C
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
Journal of medical genetics 1997;34(12):973-7.
1997: Gardner K; Barmada M M; Ptacek L J; Hoffman E P
A new locus for hemiplegic migraine maps to chromosome 1q31.
Neurology 1997;49(5):1231-8.
1997: Feero W G; Li S; Rosenblatt J D; Sirianni N; Morgan J E; Partridge T A; Huang L; Hoffman E P
Selection and use of ligands for receptor-mediated gene delivery to myogenic cells.
Gene therapy 1997;4(7):664-74.
1997: Pegoraro E; Whitaker J; Mowery-Rushton P; Surti U; Lanasa M; Hoffman E P
Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.
American journal of human genetics 1997;61(1):160-70.
1997: Witchel S F; Lee P A; Suda-Hartman M; Trucco M; Hoffman E P
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1997;82(7):2097-101.
1997: Duggan D J; Manchester D; Stears K P; Mathews D J; Hart C; Hoffman E P
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
Neurogenetics 1997;1(1):49-58.
1997: Witchel S F; Wenger S L; Hoffman E P
Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22).
Journal of pediatric and adolescent gynecology 1997;10(2):78-82.
1997: Morrone A; Pegoraro E; Angelini C; Zammarchi E; Marconi G; Hoffman E P
RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.
The Journal of clinical investigation 1997;99(7):1691-8.
1997: Morrone A; Zammarchi E; Scacheri P C; Donati M A; Hoop R C; Servidei S; Galluzzi G; Hoffman E P
Asymptomatic dystrophinopathy.
American journal of medical genetics 1997;69(3):261-7.
1997: Feero W G; Rosenblatt J D; Huard J; Watkins S C; Epperly M; Clemens P R; Kochanek S; Glorioso J C; Partridge T A; Hoffman E P
Viral gene delivery to skeletal muscle: insights on maturation-dependent loss of fiber infectivity for adenovirus and herpes simplex type 1 viral vectors.
Human gene therapy 1997;8(4):371-80.
1997: Duggan D J; Gorospe J R; Fanin M; Hoffman E P; Angelini C
Mutations in the sarcoglycan genes in patients with myopathy.
The New England journal of medicine 1997;336(9):618-24.
1996: Duggan D J; Hoffman E P
Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex.
Neuromuscular disorders : NMD 1996;6(6):475-82.
1996: Hoffman E P; Clemens P R
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies.
Current opinion in rheumatology 1996;8(6):528-38.
1996: Pegoraro E; Mancias P; Swerdlow S H; Raikow R B; Garcia C; Marks H; Crawford T; Carver V; Di Cianno B; Hoffman E P
Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
Annals of neurology 1996;40(5):782-91.
1996: Witchel S F; Bhamidipati D K; Hoffman E P; Cohen J B
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1996;81(11):4081-8.
1996: McNally E M; Duggan D; Gorospe J R; Bönnemann C G; Fanin M; Pegoraro E; Lidov H G; Noguchi S; Ozawa E; Finkel R S; Cruse R P; Angelini C; Kunkel L M; Hoffman E P
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.
Human molecular genetics 1996;5(11):1841-7.
1996: Huard J; Feero W G; Watkins S C; Hoffman E P; Rosenblatt D J; Glorioso J C
The basal lamina is a physical barrier to herpes simplex virus-mediated gene delivery to mature muscle fibers.
Journal of virology 1996;70(11):8117-23.
1996: Kobayashi H; Garcia C A; Tay P N; Hoffman E P
Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease).
Muscle & nerve 1996;19(11):1435-8.
1996: Koty P P; Pegoraro E; Hobson G; Marks H G; Turel A; Flagler D; Cadaldini M; Angelini C; Hoffman E P
Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.
Neurology 1996;47(4):963-8.
1996: Duggan D J; Fanin M; Pegoraro E; Angelini C; Hoffman E P
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
Journal of the neurological sciences 1996;140(1-2):30-9.
1996: Carr E A; Spier S J; Kortz G D; Hoffman E P
Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis.
Journal of the American Veterinary Medical Association 1996;209(4):798-803.
1996: Hoffman E P; Pegoraro E; Scacheri P; Burns R G; Taber J W; Weiss L; Spiro A; Blattner P
Genetic counseling of isolated carriers of Duchenne muscular dystrophy.
American journal of medical genetics 1996;63(4):573-80.
1996: Kobayashi H; Garcia C A; Alfonso G; Marks H G; Hoffman E P
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
Journal of the neurological sciences 1996;137(2):131-8.
1996: Pegoraro E; Carelli V; Zeviani M; Cortelli P; Montagna P; Barboni P; Angelini C; Hoffman E P
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.
American journal of medical genetics 1996;61(4):356-62.
1996: Gorospe J R; Nishikawa B K; Hoffman E P
Recruitment of mast cells to muscle after mild damage.
Journal of the neurological sciences 1996;135(1):10-7.
1996: Hoffman E P
Clinical and histopathological features of abnormalities of the dystrophin-based membrane cytoskeleton.
Brain pathology (Zurich, Switzerland) 1996;6(1):49-61.
1995: Feero W; Hoffman E P
Huntington's disease. Their loss is our gain?
Current biology : CB 1995;5(11):1229-31.
1995: Bönnemann C G; Modi R; Noguchi S; Mizuno Y; Yoshida M; Gussoni E; McNally E M; Duggan D J; Angelini C; Hoffman E P
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
Nature genetics 1995;11(3):266-73.
1995: Ljunggren A; Duggan D; McNally E; Boylan K B; Gama C H; Kunkel L M; Hoffman E P
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin.
Annals of neurology 1995;38(3):367-72.
1995: Kobayashi H; Baumbach L; Matise T C; Schiavi A; Greenberg F; Hoffman E P
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.
Human molecular genetics 1995;4(7):1213-6.
1995: Fidzianska A; Morrone A; Pegoraro E; Ryniewicz B; Ilnicka A; Zammarchi E; Hoffman E P
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy.
Neuropediatrics 1995;26(3):163-7.
1995: Kobayashi H; Matise T C; Perlin M W; Marks H G; Hoffman E P
Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods.
Human genetics 1995;95(5):483-90.
1995: Ziadeh R; Hoffman E P; Finegold D N; Hoop R C; Brackett J C; Strauss A W; Naylor E W
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Pediatric research 1995;37(5):675-8.
1995: Pegoraro E; Schimke R N; Garcia C; Stern H; Cadaldini M; Angelini C; Barbosa E; Carroll J; Marks W A; Neville H E; Marks H; Appleton S; Toriello H; Wessel H B; Donnelly J; Bernes S M; Taber J W; Weiss L; Hoffman E P
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei.
Neurology 1995;45(4):677-90.
1995: Wang J; Pegoraro E; Menegazzo E; Gennarelli M; Hoop R C; Angelini C; Hoffman E P
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.
Human molecular genetics 1995;4(4):599-606.
1995: Hoffman E P; Lehmann-Horn F; Rüdel R
Overexcited or inactive: ion channels in muscle disease.
Cell 1995;80(5):681-6.
1995: Dubrovsky A L; Taratuto A L; Sevlever G; Schultz M; Pegoraro E; Hoop R C; Hoffman E P
Duchenne muscular dystrophy and myotonic dystrophy in the same patient.
American journal of medical genetics 1995;55(3):342-8.
1995: Hoffman E P
Voltage-gated ion channelopathies: inherited disorders caused by abnormal sodium, chloride, and calcium regulation in skeletal muscle.
Annual review of medicine 1995;46():431-41.
1994: Stephan D A; Buist N R; Chittenden A B; Ricker K; Zhou J; Hoffman E P
A rippling muscle disease gene is localized to 1q41: evidence for multiple genes.
Neurology 1994;44(10):1915-20.
1994: Zhou J; Spier S J; Beech J; Hoffman E P
Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis.
Human molecular genetics 1994;3(9):1599-603.
1994: Zhou J; Hoffman E P
Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction.
The Journal of biological chemistry 1994;269(28):18563-71.
1994: Gorospe J R; Tharp M; Demitsu T; Hoffman E P
Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis.
Neuromuscular disorders : NMD 1994;4(4):325-33.
1994: Gorospe J R; Tharp M D; Hinckley J; Kornegay J N; Hoffman E P
A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice.
Journal of the neurological sciences 1994;122(1):44-56.
1994: D'Amore P A; Brown R H; Ku P T; Hoffman E P; Watanabe H; Arahata K; Ishihara T; Folkman J
Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy.
Annals of neurology 1994;35(3):362-5.
1994: Hoop R C; Russo L S; Riconda D L; Schwartz L S; Hoffman E P
Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family.
American journal of medical genetics 1994;49(3):323-7.
1994: Hoffman E P
The Evolving Genome Project: current and future impact.
American journal of human genetics 1994;54(1):129-36.
1993: Hoffman E P; Wang J
Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products.
Archives of neurology 1993;50(11):1227-37.
1993: Hoffman E P; Jaffurs D
An expanding enigma.
Current biology : CB 1993;3(7):456-9.
1993: Fanin M; Hoffman E P; Saad F A; Martinuzzi A; Danieli G A; Angelini C
Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients.
Neuromuscular disorders : NMD 1993;3(2):119-27.
1993: Hoffman E P
Genotype/phenotype correlations in Duchenne/Becker dystrophy.
Molecular and cell biology of human diseases series 1993;3():12-36.
1992: Gorospe J R; Hoffman E P
Duchenne muscular dystrophy.
Current opinion in rheumatology 1992;4(6):794-800.
1992: Beggs A H; Hoffman E P; Kunkel L M
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions.
American journal of medical genetics 1992;44(3):378-81.
1992: Schwartz L S; Tarleton J; Popovich B; Seltzer W K; Hoffman E P
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.
American journal of human genetics 1992;51(4):721-9.
1992: Rudolph J A; Spier S J; Byrns G; Rojas C V; Bernoco D; Hoffman E P
Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.
Nature genetics 1992;2(2):144-7.
1992: Wenger S L; Steele M W; Hoffman E P; Barmada M A; Wessel H B
X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers.
American journal of medical genetics 1992;43(6):1012-5.
1992: Hoffman E P
Stutter, stumble, or fall of a kinase?
Current biology : CB 1992;2(6):309-11.
1992: Hoffman E P; Arahata K; Minetti C; Bonilla E; Rowland L P
Dystrophinopathy in isolated cases of myopathy in females.
Neurology 1992;42(5):967-75.
1992: Wang J Z; Rojas C V; Zhou J H; Schwartz L S; Nicholas H; Hoffman E P
Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.
Biochemical and biophysical research communications 1992;182(2):794-801.
1992: Rudolph J A; Spier S J; Byrns G; Hoffman E P
Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene.
Animal genetics 1992;23(3):241-50.
1991: Rojas C V; Wang J Z; Schwartz L S; Hoffman E P; Powell B R; Brown R H
A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
Nature 1991;354(6352):387-9.
1991: Rojas C V; Hoffman E P
Recent advances in dystrophin research.
Current opinion in neurobiology 1991;1(3):420-9.
1991: Hoffman E P; Garcia C A; Chamberlain J S; Angelini C; Lupski J R; Fenwick R
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy.
Annals of neurology 1991;30(4):605-10.
1991: Lupski J R; Garcia C A; Zoghbi H Y; Hoffman E P; Fenwick R G
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
American journal of medical genetics 1991;40(3):354-64.
1991: Beggs A H; Hoffman E P; Snyder J R; Arahata K; Specht L; Shapiro F; Angelini C; Sugita H; Kunkel L M
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.
American journal of human genetics 1991;49(1):54-67.
1991: Hoffman E P; Schwartz L
Dystrophin and disease.
Molecular aspects of medicine 1991;12(3):175-94.
1990: Hoffman E P; Morgan J E; Watkins S C; Partridge T A
Somatic reversion/suppression of the mouse mdx phenotype in vivo.
Journal of the neurological sciences 1990;99(1):9-25.
1990: Angelini C; Beggs A H; Hoffman E P; Fanin M; Kunkel L M
Enormous dystrophin in a patient with Becker muscular dystrophy.
Neurology 1990;40(5):808-12.
1989: Hoffman E P; Kunkel L M; Angelini C; Clarke A; Johnson M; Harris J B
Improved diagnosis of Becker muscular dystrophy by dystrophin testing.
Neurology 1989;39(8):1011-7.
1989: Hoffman E P; Watkins S C; Slayter H S; Kunkel L M
Detection of a specific isoform of alpha-actinin with antisera directed against dystrophin.
The Journal of cell biology 1989;108(2):503-10.
1989: Hoffman E P
Human molecular genetics and the elucidation of the primary biochemical defect in Duchenne muscular dystrophy.
Cell motility and the cytoskeleton 1989;14(1):163-8.
1988: Hoffman E P; Hudecki M S; Rosenberg P A; Pollina C M; Kunkel L M
Cell and fiber-type distribution of dystrophin.
Neuron 1988;1(5):411-20.
1988: Hoffman E P; Fischbeck K H; Brown R H; Johnson M; Medori R; Loike J D; Harris J B; Waterston R; Brooke M; Specht L
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
The New England journal of medicine 1988;318(21):1363-8.
1987: Hoffman E P; Brown R H; Kunkel L M
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Cell 1987;51(6):919-28.
1987: Chamberlain J S; Grant S G; Reeves A A; Mullins L J; Stephenson D A; Hoffman E P; Monaco A P; Kunkel L M; Caskey C T; Chapman V M
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome.
Somatic cell and molecular genetics 1987;13(6):671-8.
1987: Hoffman E P; Monaco A P; Feener C C; Kunkel L M
Conservation of the Duchenne muscular dystrophy gene in mice and humans.
Science (New York, N.Y.) 1987;238(4825):347-50.

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