ACNP - Italian Periodicals Catalogue

AAAAAA

ITA
ENG

Results: 1-23 |

Results: 23

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999)

Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL

Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999), NEUROBIOL D, 7(2), 2000, pp. 127-127

Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi

Authors: Young, EP Winchester, BG Logan, WP Wheeler, RB Lake, BD

Citation: Ep. Young et al., Exclusion of late infantile neuronal ceroid lipofuscinosis (LINCL) in a fetus by assay of tripeptidyl peptidase I in chorionic villi, PRENAT DIAG, 20(4), 2000, pp. 337-339

Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5)

Authors: Rapola, J Lake, BD

Citation: J. Rapola et Bd. Lake, Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5), NEUROPEDIAT, 31(1), 2000, pp. 33-34

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms

Authors: Rahman, S Lake, BD Taanman, JW Hanna, MG Cooper, JM Schapira, AHV Leonard, JV

Citation: S. Rahman et al., Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms, BRAIN, 123, 2000, pp. 591-600

A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999)

Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM

Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999), MOL GEN MET, 67(4), 1999, pp. 368-368

A murine model for juvenile NCL: Gene targeting of mouse Cln3

Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM

Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse Cln3, MOL GEN MET, 66(4), 1999, pp. 309-313

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23

Authors: Sharp, JD Wheeler, RB Lake, BD Fox, M Gardiner, RM Williams, RE

Citation: Jd. Sharp et al., Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23, MOL GEN MET, 66(4), 1999, pp. 329-331

A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7

Authors: Wheeler, RB Sharp, JD Mitchell, WA Bate, SL Williams, RE Lake, BD Gardiner, RM

Citation: Rb. Wheeler et al., A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7, MOL GEN MET, 66(4), 1999, pp. 337-338

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease

Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL

Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease, NEUROBIOL D, 6(5), 1999, pp. 321-334

The neuronal ceroid lipofuscinoses (Batten disease) - Introduction

Authors: Goebel, HH Mole, SE Lake, BD

Citation: Hh. Goebel et al., The neuronal ceroid lipofuscinoses (Batten disease) - Introduction, BIOM HLTH R, 33, 1999, pp. 1-4

Definitions of the ultrastructural patterns found in NCL

Authors: Elleder, M Lake, BD Goebel, HH Rapola, J Haltia, M Carpenter, S

Citation: M. Elleder et al., Definitions of the ultrastructural patterns found in NCL, BIOM HLTH R, 33, 1999, pp. 5-15

Infantile and other types of NCL with GROD

Authors: Santavuori, P Gottlob, I Haltia, M Rapola, J Lake, BD Tyynela, J Peltonen, L

Citation: P. Santavuori et al., Infantile and other types of NCL with GROD, BIOM HLTH R, 33, 1999, pp. 16-36

Classic late infantile NCL

Authors: Williams, RE Gottlob, I Lake, BD Goebel, HH Winchester, BG Wheeler, RB

Citation: Re. Williams et al., Classic late infantile NCL, BIOM HLTH R, 33, 1999, pp. 37-54

Juvenile NCL

Authors: Hofman, I Kohlschutter, A Santavuori, P Gottlob, I Goebel, HH Lake, BD Schutgens, RBH Greene, NDE Leung, KY Mitchison, HM Munroe, PB Taschner, PEM

Citation: I. Hofman et al., Juvenile NCL, BIOM HLTH R, 33, 1999, pp. 55-76

Variant late infantile/early juvenile NCL

Authors: Williams, RE Lake, BD Elleder, M Sharp, JD

Citation: Re. Williams et al., Variant late infantile/early juvenile NCL, BIOM HLTH R, 33, 1999, pp. 102-113

Turkish variant late infantile NCL

Authors: Williams, RE Topcu, M Lake, BD Mitchell, W Mole, SE

Citation: Re. Williams et al., Turkish variant late infantile NCL, BIOM HLTH R, 33, 1999, pp. 114-116

NCL variants without genetic assignment

Authors: Kohlschutter, A Lake, BD

Citation: A. Kohlschutter et Bd. Lake, NCL variants without genetic assignment, BIOM HLTH R, 33, 1999, pp. 125-127

Morphologic diagnostic considerations

Authors: Lake, BD Goebel, HH

Citation: Bd. Lake et Hh. Goebel, Morphologic diagnostic considerations, BIOM HLTH R, 33, 1999, pp. 142-144

NCL diagnostic algorithms

Authors: Williams, RE Kohlschutter, A Santavuori, P Mole, SE Lake, BD

Citation: Re. Williams et al., NCL diagnostic algorithms, BIOM HLTH R, 33, 1999, pp. 149-151

Animal models of NCL

Authors: Lingaas, F Mitchison, HM Mole, SE Koppang, N Goebel, HH Lake, BD

Citation: F. Lingaas et al., Animal models of NCL, BIOM HLTH R, 33, 1999, pp. 152-167

An adult with a non-neuronopathic form of Niemann-Pick C disease

Authors: Fensom, AH Grant, AR Steinberg, SJ Ward, CP Lake, BD Logan, EC Hulman, G

Citation: Ah. Fensom et al., An adult with a non-neuronopathic form of Niemann-Pick C disease, J INH MET D, 22(1), 1999, pp. 84-86

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

Authors: McGrath, JA Hoeger, PH Christiano, AM McMillan, JR Mellerio, JE Ashton, GHS Dopping-Hepenstal, PJC Lake, BD Leigh, IM Harper, JI Eady, RAJ

Citation: Ja. Mcgrath et al., Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1, BR J DERM, 140(2), 1999, pp. 297-307

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

Authors: Rahman, S Taanman, JW Cooper, JM Nelson, I Hargreaves, I Meunier, B Hanna, MG Garcia, JJ Capaldi, RA Lake, BD Leonard, JV Schapira, AHV

Citation: S. Rahman et al., A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy, AM J HU GEN, 65(4), 1999, pp. 1030-1039

Risultati: 1-23 |