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Results 1 to 25 of 48

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A fragile balance: FMR1 expression levelsOOSTRA, Ben A; WILLEMSEN, Rob.Human molecular genetics (Print). 2003, Vol 12, pp R249-R257, issn 0964-6906, NS2Article

FMRP detection assay for the diagnosis of the fragile X syndromeWILLEMSEN, Rob; OOSTRA, Ben A.American journal of medical genetics. 2000, Vol 97, Num 3, pp 183-188, issn 0148-7299Article

NPHP4 Variants Are Associated With Pleiotropic Heart MalformationsFRENCH, Vanessa M; DE LAAR, Ingrid M. B. H. Van; BREEDVELD, Guido et al.Circulation research. 2012, Vol 110, Num 12, pp 1564-1574, issn 0009-7330, 11 p.Article

Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutationJÜRGEN WENZEL, H; HUNSAKER, Michael R; GRECO, Claudia M et al.Brain research. 2010, Vol 1318, pp 155-166, issn 0006-8993, 12 p.Article

New rat model that phenotypically resembles autosomal recessive polycystic kidney diseaseNAUTA, Jeroen; GOEDBLOED, Miriam A; VAN HERCK, Harry et al.Journal of the American Society of Nephrology. 2000, Vol 11, Num 12, pp 2272-2284, issn 1046-6673Article

Fragile x syndrome phenotype with normal FMR1 gene studiesCLARKE, Nigel F; MOWAT, David; KOOY, R. Frank et al.American journal of medical genetics. 2004, Vol 129A, Num 3, pp 326-328, issn 0148-7299, 3 p.Article

Sculpting the brain - : The role of FMRP in synaptic plasticityREIS, Surya A; OOSTRA, Ben A; WILLEMSEN, Rob et al.The molecular basis of fragile X syndrome. 2005, pp 145-169, isbn 81-7736-257-7, 1Vol, 25 p.Book Chapter

Timing of the absence of FMR1 expression in full mutation chorionic villiWILLEMSEN, Rob; BONTEKOE, Carola J. M; SEVERIJNEN, Lies-Anne et al.Human genetics. 2002, Vol 110, Num 6, pp 601-605, issn 0340-6717Article

Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutationSCHLUTER, Erik W; HUNSAKER, Michael R; GRECO, Claudia M et al.Brain research. 2012, Vol 1472, pp 124-137, issn 0006-8993, 14 p.Article

Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutationHUNSAKER, Michael R; GOODRICH-HUNSAKER, Naomi J; WILLEMSEN, Rob et al.Behavioural brain research. 2010, Vol 213, Num 2, pp 263-268, issn 0166-4328, 6 p.Article

Progressive Spatial Processing Deficits in a Mouse Model of the Fragile X PremutationHUNSAKER, Michael R; WENZEL, H. Jürgen; WILLEMSEN, Rob et al.Behavioral neuroscience. 2009, Vol 123, Num 6, pp 1315-1324, issn 0735-7044, 10 p.Article

A crucial role of caldesmon in vascular development in vivoZHENG, Ping-Pin; SEVERIJNEN, Lies-Anne; VAN DER WEIDEN, Marcel et al.Cardiovascular research. 2009, Vol 81, Num 2, pp 362-369, issn 0008-6363, 8 p.Article

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansionsSIMON-SANCHEZ, Javier; DOPPER, Elise G. P; SMITS, Marion et al.Brain. 2012, Vol 135, pp 723-735, issn 0006-8950, 13 p., 3Article

Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degenerationYUCUI CHEN; TASSONE, Flora; BERMAN, Robert F et al.Human molecular genetics (Print). 2010, Vol 19, Num 1, pp 196-208, issn 0964-6906, 13 p.Article

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndromeBROUWER, Judith R; HUIZER, Karin; SEVERIJNEN, Lies-Anne et al.Journal of neurochemistry. 2008, Vol 107, Num 6, pp 1671-1682, issn 0022-3042, 12 p.Article

The ΔK280 mutation in MAP tau favors exon 10 skipping in vivoVAN SWIETEN, John C; BRONNER, Iraad F; AZMANI, Asma et al.Journal of neuropathology and experimental neurology. 2007, Vol 66, Num 1, pp 17-25, issn 0022-3069, 9 p.Article

Clinical features of boys with fragile X premutations and intermediate allelesAZIZ, Monica; STATHOPULU, Eleni; CALLIAS, Maria et al.American journal of medical genetics. 2003, Vol 121A, Num 2, pp 119-127, issn 0148-7299, 9 p.Article

Knockout mouse model for Fxr2: a model for mental retardationBONTEKOE, Carola J. M; MCILWAIN, Kellie L; NGAN CHING CHENG et al.Human molecular genetics (Print). 2002, Vol 11, Num 5, pp 487-498, issn 0964-6906Article

Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout miceCANTOIS, Ilse; POP, Andreea S; DE ESCH, Celine E. F et al.Behavioural brain research. 2013, Vol 239, pp 72-79, issn 0166-4328, 8 p.Article

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver DiseaseQUADRI, Marialuisa; FEDERICO, Antonio; SANNA, Antioco et al.American journal of human genetics. 2012, Vol 90, Num 3, pp 467-477, issn 0002-9297, 11 p.Article

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO miceLEVENGA, Josien; DE VRIJ, Femke M. S; BUIJSEN, Ronald A. M et al.Neurobiology of learning and memory (Print). 2011, Vol 95, Num 4, pp 467-472, issn 1074-7427, 6 p.Article

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22ROSSO, Sonia M; KAMPHORST, Wouter; DE GRAAF, Bianca et al.Brain. 2001, Vol 124, pp 1948-1957, issn 0006-8950, 10Article

Locomotor activity assay in zebrafish larvae: Influence of age, strain and ethanolESCH, Celine De; DER LINDE, Herma Van; SLIEKER, Roderick et al.Neurotoxicology and teratology. 2012, Vol 34, Num 4, pp 425-433, issn 0892-0362, 9 p.Article

Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in miceHUNSAKER, Michael R; VON LEDEN, Ramona E; TA, Binh T et al.Behavioural brain research. 2011, Vol 222, Num 1, pp 117-121, issn 0166-4328, 5 p.Article

Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS)VAN DAM, Debby; ERRIJGERS, Vanessa; KOOY, R. Frank et al.Behavioural brain research. 2005, Vol 162, Num 2, pp 233-239, issn 0166-4328, 7 p.Article

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