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Rett syndrome neuropathology review 2000ARMSTRONG, Dawna Duncan.Brain & development (Tokyo. 1979). 2001, Vol 23, pp S72-S76, issn 0387-7604, SUP1Conference Paper

Neuropathology of Rett syndromeARMSTRONG, Dawna Duncan.Mental retardation and developmental disabilities research reviews. 2002, Vol 8, Num 2, pp 72-76, issn 1080-4013Article

Monosodium glutamate-sensitive hypothalamic neurons contribute to the control of bone massELEFTERIOU, Florent; TAKEDA, Shu; XIUYUN LIU et al.Endocrinology (Philadelphia). 2003, Vol 144, Num 9, pp 3842-3847, issn 0013-7227, 6 p.Article

Substance P immunoreactivity in the enteric nervous system in Rett syndromeDEGUCHI, Kimiko; REYES, Christine; CHAKRABORTY, Subhendu et al.Brain & development (Tokyo. 1979). 2001, Vol 23, pp S127-S132, issn 0387-7604, SUP1Conference Paper

Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs : PCH type 5?PATEL, Millan S; BECKER, Laurence E; TOI, Ants et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 6, pp 594-603, issn 1552-4825, 10 p.Article

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturationSHAHBAZIAN, Mona D; ANTALFFY, Barbara; ARMSTRONG, Dawna L et al.Human molecular genetics (Print). 2002, Vol 11, Num 2, pp 115-124, issn 0964-6906Article

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophyHO, Thai H; BUNDMAN, Donnie; ARMSTRONG, Dawna L et al.Human molecular genetics (Print). 2005, Vol 14, Num 11, pp 1539-1547, issn 0964-6906, 9 p.Article

Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyesBEJJANI, Bassem A; LI XU; ARMSTRONG, Dawna et al.Experimental eye research. 2002, Vol 75, Num 3, pp 249-257, issn 0014-4835, 9 p.Article

Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasiasCORAS, Roland; DE BOER, Onno J; MARUCCI, Gianluca et al.Epilepsia (Copenhagen). 2012, Vol 53, Num 8, pp 1341-1348, issn 0013-9580, 8 p.Article

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancyMORETTI, Paolo; BLAZO, Maria; GARCIA, Leonardo et al.American journal of medical genetics. 2004, Vol 124A, Num 4, pp 392-396, issn 0148-7299, 5 p.Article

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutationSZIGETI, Kinga; GULAM MUSTAFA SAIFI; ARMSTRONG, Dawna et al.Annals of neurology. 2003, Vol 54, Num 3, pp 398-402, issn 0364-5134, 5 p.Article

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in miceBRESSLER, Jan; TSAI, Ting-Fen; WU, Mei-Yi et al.Nature genetics. 2001, Vol 28, Num 3, pp 232-240, issn 1061-4036Article

CMT4A: Identification of a Hispanic GDAP1 founder mutationBOERKOEL, Cornelius F; TAKASHIMA, Hiroshi; NAKAGAWA, Masanori et al.Annals of neurology. 2003, Vol 53, Num 3, pp 400-405, issn 0364-5134, 6 p.Article

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyTAKASHIMA, Hiroshi; BOERKOEL, Cornelius F; STOCKTON, David W et al.Nature genetics. 2002, Vol 32, Num 2, pp 267-272, issn 1061-4036, 6 p.Article

Guidelines for reporting clinical features in cases with MECP2 mutationsKERR, Alison M; NOMURA, Yoshiko; D'ESPOSITO, Maurizio et al.Brain & development (Tokyo. 1979). 2001, Vol 23, Num 4, pp 208-211, issn 0387-7604Article

Shaken infant syndrome: developmental neuropathology, progressive cortical dysplasia, and epilepsyMARIN-PADILLA, Miguel; PARISI, Joseph E; ARMSTRONG, Dawna L et al.Acta neuropathologica. 2002, Vol 103, Num 4, pp 321-332, issn 0001-6322Article

Increased blood-brain barrier permeability with thymidine phosphorylase deficiencySZIGETI, Kinga; SULE, Norbert; ADESINA, Adekunle M et al.Annals of neurology. 2004, Vol 56, Num 6, pp 881-886, issn 0364-5134, 6 p.Article

Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasiaLJUNGBERG, M. Cecilia; BHATTACHARJEE, Meenakshi B; YAOJUAN LU et al.Annals of neurology. 2006, Vol 60, Num 4, pp 420-429, issn 0364-5134, 10 p.Article

Schimke immuno-osseous dysplasia : A cell autonomous disorder?ELIZONDO, Leah I; CHENG HUANG; NORTHROP, Jennifer L et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 4, pp 340-348, issn 1552-4825, 9 p.Article

Presence of filamin in the astrocytic inclusions of Aicardi syndromeVAN DEN VEYVER, Ignatia B; PANICHKUL, Prisana P; ANTALFFY, Barbra A et al.Pediatric neurology. 2004, Vol 30, Num 1, pp 7-15, issn 0887-8994, 9 p.Article

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypesWEIMIN BI; JIONG YAN; LUPSKL, James R et al.Human molecular genetics (Print). 2007, Vol 16, Num 15, pp 1802-1813, issn 0964-6906, 12 p.Article

Expression analysis of juvenile pilocytic astrocytomas by oligonucleotide microarray reveals two potential subgroupsWONG, Kwong-Kwok; CHANG, Yi-Mieng; CHINTAGUMPALA, Murali et al.Cancer research (Baltimore). 2005, Vol 65, Num 1, pp 76-84, issn 0008-5472, 9 p.Article

Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in rett syndrome : Potential implications for clinical autonomic dysfunctionPATERSON, David S; THOMPSON, Eric G; BELLIVEAU, Richard A et al.Journal of neuropathology and experimental neurology. 2005, Vol 64, Num 11, pp 1018-1027, issn 0022-3069, 10 p.Article

Secretin receptor-deficient mice exhibit impaired synaptic plasticity and social behaviorNISHIJIMA, Ichiko; YAMAGATA, Takanori; PAYLOR, Richard et al.Human molecular genetics (Print). 2006, Vol 15, Num 21, pp 3241-3250, issn 0964-6906, 10 p.Article

Reelin and disabled-1 expression in developing and mature human cortical neuronsDEGUCHI, Kimiko; INOUE, Ken; AVILA, William E et al.Journal of neuropathology and experimental neurology. 2003, Vol 62, Num 6, pp 676-684, issn 0022-3069, 9 p.Article

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