A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation
Hemara-Wahanui, Ariana, Berjukow, Stanislav, Hope, Carolyn I, Dearden, Peter K, Wu, Shu-Biao, Wilson-Wheeler, Jane, Sharp, Dianne M, Lundon-Treweek, Patricia, Clover, Gillian M, Hoda, Jean-Charles, Striessnig, Jörg, Marksteiner, Rainer, Hering, Steffen, Maw, Marion A
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2005)
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Structural Determinants of L-type Channel Activation in Segment IIS6 Revealed by a Retinal Disorder
Hohaus, Annette, Beyl, Stanislav, Kudrnac, Michaela, Berjukow, Stanislav, Timin, Eugen N., Marksteiner, Rainer, Maw, Marion A., Hering, Steffen
Published in The Journal of biological chemistry (18.11.2005)
Published in The Journal of biological chemistry (18.11.2005)
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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa
Maw, Marion A, Kennedy, Breandan, Knight, Allison, Bridges, Robyn, Roth, Karen E, Mani, E.J, Mukkadan, J.K, Nancarrow, Derek, Crabb, John W, Denton, Michael J
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
MAW, M. A, CORBEIL, D, WEIGMANN, A, HUTTNER, W. B, DENTON, M. J, KOCH, J, HELLWIG, A, WILSON-WHEELER, J. C, BRIDGES, R. J, KUMARAMANICKAVEL, G, JOHN, S, NANCARROW, D, RÖPER, K
Published in Human molecular genetics (2000)
Published in Human molecular genetics (2000)
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A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
Fuchs, Sigrid, Nakazawa, Mitsuru, Maw, Marion, Tamai, Makoto, Oguchi, Yoshihisa, Gal, Andreas
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
Ogawa, Osamu, Eccles, Michael R, Szeto, Jenny, McNoe, Leslie A, Yun, Kankatsu, Maw, Marion A, Smith, Peter J, Reeve, Anthony E
Published in Nature (London) (22.04.1993)
Published in Nature (London) (22.04.1993)
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Sociodemographic, mental health, education, employment and income characteristics of adults with obsessive–compulsive disorder who accessed secondary health services in Aotearoa | New Zealand
McLeod, Keith, Bowden, Nicholas, Thabrew, Hiran, Truman, Kate, Maw, Marion
Published in Journal of the Royal Society of New Zealand (06.10.2024)
Published in Journal of the Royal Society of New Zealand (06.10.2024)
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Establishment of functional imprinting of the H19 gene in human developing placentae
Jinno, Yoshihiro, Ikeda, Yuichiro, Yun, Kankatsu, Maw, Marion, Masuzaki, Hideaki, Fukuda, Hisanobu, Inuzuka, Kunihiko, Fujishita, Akira, Ohtani, Yoshinobu, Okimoto, Tomoaki, Ishimaru, Tadayuki, Niikawa, Norio
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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Effects of Presynaptic Mutations on a Postsynaptic Cacna1s Calcium Channel Colocalized with mGluR6 at Mouse Photoreceptor Ribbon Synapses
Specht, Dana, Wu, Shu-Biao, Turner, Paul, Dearden, Peter, Koentgen, Frank, Wolfrum, Uwe, Maw, Marion, Brandstatter, Johann Helmut, tom Dieck, Susanne
Published in Investigative ophthalmology & visual science (01.02.2009)
Published in Investigative ophthalmology & visual science (01.02.2009)
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Connexin26 deafness in several interconnected families
Wilcox, Stephen A, Osborn, Amelia H, Allen-Powell, Denise R, Maw, Marion A, Dahl, Hans-Henrik M, Gardner, R J McKinlay
Published in Journal of medical genetics (01.05.1999)
Published in Journal of medical genetics (01.05.1999)
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Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene
Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine
Published in Human molecular genetics (01.11.1997)
Published in Human molecular genetics (01.11.1997)
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The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression
Guan, Min-Xin, Enriquez, José Antonio, Fischel-Ghodsian, Nathan, Puranam, Ram S., Lin, Catherine P., Maw, Marion A., Attardi, Giuseppe
Published in Molecular and Cellular Biology (01.10.1998)
Published in Molecular and Cellular Biology (01.10.1998)
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A missense mutation in ALDH18A1, encoding [delta] super(1)-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
Bicknell, Louise S, Pitt, James, Aftimos, Salim, Ramadas, Ram, Maw, Marion A, Robertson, Stephen P
Published in European journal of human genetics : EJHG (01.10.2008)
Published in European journal of human genetics : EJHG (01.10.2008)
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A missense mutation in ALDH18A1, encoding [Delta]1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
Bicknell, Louise S, Pitt, James, Aftimos, Salim, Ramadas, Ram, Maw, Marion A, Robertson, Stephen P
Published in European journal of human genetics : EJHG (01.10.2008)
Published in European journal of human genetics : EJHG (01.10.2008)
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Journal Article
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
Bicknell, Louise S, Pitt, James, Aftimos, Salim, Ramadas, Ram, Maw, Marion A, Robertson, Stephen P
Published in European journal of human genetics : EJHG (01.10.2008)
Published in European journal of human genetics : EJHG (01.10.2008)
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Journal Article
A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
BICKNELL, Louise S, PITT, James, AFTIMOS, Salim, RAMADAS, Ram, MAW, Marion A, ROBERTSON, Stephen P
Published in European journal of human genetics : EJHG (14.05.2008)
Published in European journal of human genetics : EJHG (14.05.2008)
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Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2
Hope, Carolyn I, Sharp, Dianne M, Hemara-Wahanui, Ariana, Sissingh, Jennifer I, Lundon, Patricia, Mitchell, Ed A, Maw, Marion A, Clover, Gillian M
Published in Clinical & experimental ophthalmology (01.04.2005)
Published in Clinical & experimental ophthalmology (01.04.2005)
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Journal Article
Effects of Presynaptic Mutations on a Postsynaptic Cacnals Calcium Channel Colocalized with mGluR6 at Mouse Photoreceptor Ribbon Synapses
SPECHT, Dana, WU, Shu-Biao, TURNER, Paul, DEARDEN, Peter, KOENTGEN, Frank, WOFRUM, Uwe, MAW, Marion, BRANDSTÄTTER, Johann Helmut, TORN DIECK, Susanne
Published in Investigative ophthalmology & visual science (2009)
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Published in Investigative ophthalmology & visual science (2009)
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