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GARS axonopathy: not every neuron's cup of tRNAMOTLEY, William W; TALBOT, Kevin; FISCHBECK, Kenneth H et al.Trends in neurosciences (Regular edition). 2010, Vol 33, Num 2, pp 59-66, issn 0166-2236, 8 p.Article

Jaw drop in Kennedy's diseaseSUMNER, Charlotte J; FISCHBECK, Kenneth H.Neurology. 2002, Vol 59, Num 9, pp 1471-1472, issn 0028-3878, 2 p.Article

Toxic proteins in neurodegenerative diseaseTAYLOR, J. Paul; HARDY, John; FISCHBECK, Kenneth H et al.Science (Washington, D.C.). 2002, Vol 296, Num 5575, pp 1991-1995, issn 0036-8075Article

Polyglutamine expansion neurodegenerative diseaseFISCHBECK, Kenneth H.Brain research bulletin. 2001, Vol 56, Num 3-4, pp 161-163, issn 0361-9230Conference Paper

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in miceKWON, Deborah Y; MOTLEY, William W; FISCHBECK, Kenneth H et al.Human molecular genetics (Print). 2011, Vol 20, Num 18, pp 3667-3677, issn 0964-6906, 11 p.Article

A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptorPICCIONI, Federica; ROMAN, Benjamin R; FISCHBECK, Kenneth H et al.Human molecular genetics (Print). 2004, Vol 13, Num 4, pp 437-446, issn 0964-6906, 10 p.Article

Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptorLIEBERMAN, Andrew P; HARMISON, George; STRAND, Andrew D et al.Human molecular genetics (Print). 2002, Vol 11, Num 17, pp 1967-1976, issn 0964-6906Article

A candidate gene for autoimmune myasthenia gravisLANDOURE, Guida; KNIGHT, Melanie A; RINALDI, Carlo et al.Neurology. 2012, Vol 79, Num 4, pp 342-347, issn 0028-3878, 6 p.Article

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseasePAULSON, Henry L; GARBERN, James Y; HOBAN, Timothy F et al.Annals of neurology. 2002, Vol 52, Num 4, pp 429-434, issn 0364-5134Article

Severe neuropathy with leaky Connexin32 hemichannelsLIN LIANG, Grace S; DE MIGUEL, Marta; GOMEZ-HERNANDEZ, Juan M et al.Annals of neurology. 2005, Vol 57, Num 5, pp 749-754, issn 0364-5134, 6 p.Article

Valproic acid increases SMN levels in spinal muscular atrophy patient cellsSUMNER, Charlotte J; HUYNH, Thanh N; TAYLOR, J. Paul et al.Annals of neurology. 2003, Vol 54, Num 5, pp 647-654, issn 0364-5134, 8 p.Article

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutationsWAGNER, Kathryn R; HAMED, Sherifa; HADLEY, Donald W et al.Annals of neurology. 2001, Vol 49, Num 6, pp 706-711, issn 0364-5134Article

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing FactorRINALDI, Carlo; GRUNSEICH, Christopher; BIESECKER, Leslie G et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1095-1102, issn 0002-9297, 8 p.Article

A duplication at chromosome 11q12,2-11q12-3 is associated with spinocerebellar ataxia type 20KNIGHT, Melanie A; HERNANDEZ, Dena; TAPSCOTT, Stephen J et al.Human molecular genetics (Print). 2008, Vol 17, Num 24, pp 3847-3853, issn 0964-6906, 7 p.Article

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34BLAIR, Ian P; BENNETT, Craig L; ABEL, Annette et al.Neurogenetics (Oxford. Print). 2000, Vol 3, Num 1, pp 1-6, issn 1364-6745Article

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesZIMON, Magdalena; BAETS, Jonathan; BARISIC, Nina et al.Brain. 2010, Vol 133, pp 1798-1809, issn 0006-8950, 12 p., 6Article

Mitochondrial abnormalities in spinal and bulbar muscular atrophyRANGANATHAN, Srikanth; HARMISON, George G; MEYERTHOLEN, Kristin et al.Human molecular genetics (Print). 2009, Vol 18, Num 1, pp 27-42, issn 0964-6906, 16 p.Article

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise IntoleranceMOCHEL, Fanny; KNIGHT, Melanie A; HALLER, Ronald G et al.American journal of human genetics. 2008, Vol 82, Num 3, pp 652-660, issn 0002-9297, 9 p.Article

Distal spinal and bulbar muscular atrophy caused by dynactin mutationPULS, Imke; OH, Shin J; FINNEGAN, Kimberly et al.Annals of neurology. 2005, Vol 57, Num 5, pp 687-694, issn 0364-5134, 8 p.Article

EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILYLANDOURE, Guida; SULLIVAN, Jeremy M; TRAYNOR, Bryan J et al.Neurology. 2012, Vol 79, Num 2, pp 192-194, issn 0028-3878, 3 p.Article

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy miceBRICCENO, Katherine V; SAMPOGNARO, Paul J; VAN MEERBEKE, James P et al.Human molecular genetics (Print). 2012, Vol 21, Num 20, pp 4448-4459, issn 0964-6906, 12 p.Article

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CLANDOURE, Guida; ZDEBIK, Anselm A; CHOO, Shelly S et al.Nature genetics. 2010, Vol 42, Num 2, pp 170-174, issn 1061-4036, 5 p.Article

Clinical features of spinal and bulbar muscular atrophyRHODES, Lindsay E; FREEMAN, Brandi K; DI PROSPERO, Nicholas A et al.Brain. 2009, Vol 132, pp 3242-3251, issn 0006-8950, 10 p., 12Article

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutationsSIVAKUMAR, Kumaraswamy; KYRIAKIDES, Theodoros; IONASESCU, Victor et al.Brain. 2005, Vol 128, pp 2304-2314, issn 0006-8950, 11 p., 10Article

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)CHEN, Ying-Zhang; BENNETT, Craig L; NICHOLSON, Garth A et al.American journal of human genetics. 2004, Vol 74, Num 6, pp 1128-1135, issn 0002-9297, 8 p.Article

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