Search Results - "Dahl, Hans‐Henrik M"

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency by Arsov, Todor, Mullen, Saul A., Damiano, John A., Lawrence, Kate M., Huh, Linda L., Nolan, Melinda, Young, Helen, Thouin, Anaïs, Dahl, Hans-Henrik M., Berkovic, Samuel F., Crompton, Douglas E., Sadleir, Lynette G., Scheffer, Ingrid E.

“…Summary Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We…”
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Recent advances in the molecular genetics of epilepsy by Hildebrand, Michael S, Dahl, Hans-Henrik M, Damiano, John Anthony, Smith, Richard J H, Scheffer, Ingrid E, Berkovic, Samuel F

“…Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists…”
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A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes by de Sousa Lopes, Susana Chuva, Chinnery, Patrick F, Dahl, Hans-Henrik M, Cree, Lynsey M, Rajasimha, Harsha Karur, Wonnapinij, Passorn, Mann, Jeffrey R, Samuels, David C

“…Mammalian mitochondrial DNA (mtDNA) is inherited principally down the maternal line, but the mechanisms involved are not fully understood. Females harboring a…”
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Etiology and audiological outcomes at 3 years for 364 children in Australia by Dahl, Hans-Henrik M, Ching, Teresa Y C, Hutchison, Wendy, Hou, Sanna, Seeto, Mark, Sjahalam-King, Jessica

“…Hearing loss is an etiologically heterogeneous trait with differences in the age of onset, severity and site of lesion. It is caused by a combination of…”
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Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role by Hildebrand, Michael S., Damiano, John A., Mullen, Saul A., Bellows, Susannah T., Oliver, Karen L., Dahl, Hans‐Henrik M., Scheffer, Ingrid E., Berkovic, Samuel F.

“…Summary The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate…”
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Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease by Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., Dahl, Hans-Henrik M., Hutchison, Wendy M., Vascotto, Katherine A., Smith, Stacey M., Newbold, Robert F., Christodoulou, John, Calvo, Sarah, Mootha, Vamsi K., Ryan, Michael T., Thorburn, David R.

“…Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven…”
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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency by Kirby, Denise M, Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M, Kirk, Edwin P, Boneh, Avihu, Taylor, Robert W, Dahl, Hans-Henrik M, Ryan, Michael T, Thorburn, David R

“…complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding…”
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A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart by Manji, Shehnaaz S M, Williams, Louise H, Miller, Kerry A, Ooms, Lisa M, Bahlo, Melanie, Mitchell, Christina A, Dahl, Hans-Henrik M

“…Hearing impairment is the most common sensory impairment in humans, affecting 1:1,000 births. We have identified an ENU generated mouse mutant, Mozart, with…”
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Inner ear morphology is perturbed in two novel mouse models of recessive deafness by Miller, Kerry A, Williams, Louise H, Rose, Elizabeth, Kuiper, Michael, Dahl, Hans-Henrik M, Manji, Shehnaaz S M

“…Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic…”
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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy by Hildebrand, Michael S., Tankard, Rick, Gazina, Elena V., Damiano, John A., Lawrence, Kate M., Dahl, Hans‐Henrik M., Regan, Brigid M., Shearer, Aiden Eliot, Smith, Richard J. H., Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E., Reid, Christopher A., Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F.

“…Objective Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations…”
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Eeyore: a novel mouse model of hereditary deafness by Miller, Kerry A, Williams, Louise H, Dahl, Hans-Henrik M, Manji, Shehnaaz S M

“…Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can…”
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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features by Berkovic, Samuel F, Oliver, Karen L, Canafoglia, Laura, Krieger, Penina, Damiano, John A, Hildebrand, Michael S, Morbin, Michela, Vears, Danya F, Sofia, Vito, Giuliano, Loretta, Garavaglia, Barbara, Simonati, Alessandro, Santorelli, Filippo M, Gambardella, Antonio, Labate, Angelo, Belcastro, Vincenzo, Castellotti, Barbara, Ozkara, Cigdem, Zeman, Adam, Rankin, Julia, Mole, Sara E, Aguglia, Umberto, Farrell, Michael, Rajagopalan, Sulekha, McDougall, Alan, Brammah, Susan, Andermann, Frederick, Andermann, Eva, Dahl, Hans-Henrik M, Franceschetti, Silvana, Carpenter, Stirling

“…See Tyynelä and Lehesjoki (doi:10.1093/brain/awy312) for a scientific commentary on this article. Kufs disease, the major adult form of neuronal ceroid…”
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Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea by Hildebrand, Michael S, Dahl, Hans-Henrik M, Hardman, Jennifer, Coleman, Bryony, Shepherd, Robert K, de Silva, Michelle G

“…The low regenerative capacity of the hair cells of the mammalian inner ear is a major obstacle for functional recovery following sensorineural hearing loss. A…”
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A novel splice site mutation in EYA4 causes DFNA10 hearing loss by Hildebrand, Michael S., Coman, David, Yang, Tao, Gardner, R.J. McKinlay, Rose, Elizabeth, Smith, Richard J.H., Bahlo, Melanie, Dahl, Hans-Henrik M.

“…Nonsyndromic autosomal dominant sensorineural hearing loss (SNHL) at the DFNA10 locus was described in two families in 2001. Causative mutations that affect…”
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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis by Smith, Katherine R, Dahl, Hans-Henrik M, Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C, Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F, Sims, Katherine B, Mole, Sara E, Franceschetti, Silvana, Alexander, Noreen A, Cooper, Jonathan D, Chapman, Harold A, Carpenter, Stirling, Berkovic, Samuel F, Bahlo, Melanie

“…Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently…”
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Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia by Damiano, John A, Afawi, Zaid, Bahlo, Melanie, Mauermann, Monika, Misk, Adel, Arsov, Todor, Oliver, Karen L, Dahl, Hans-Henrik M, Shearer, A Eliot, Smith, Richard J H, Hall, Nathan E, Mahmood, Khalid, Leventer, Richard J, Scheffer, Ingrid E, Muona, Mikko, Lehesjoki, Anna-Elina, Korczyn, Amos D, Herrmann, Harald, Berkovic, Samuel F, Hildebrand, Michael S

“…We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare,…”
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Cochlear Implants for DFNA17 Deafness by Hildebrand, Michael S., de Silva, Michelle G., Gardner, R. J. McKinlay, Rose, Elizabeth, de Graaf, Carolyn A., Bahlo, Melanie, Dahl, Hans-Henrik M.

“…Background: Nonsyndromic autosomal‐dominant, adult‐onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997,…”
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Molecular characterization and expression of maternally expressed gene 3 (Meg3/Gtl2) RNA in the mouse inner ear by Manji, Shehnaaz S.M., Sørensen, Brita S., Klockars, Tuomas, Lam, Timothy, Hutchison, Wendy, Dahl, Hans-Henrik M.

“…The pathways responsible for sound perception in the cochlea involve the coordinated and regulated expression of hundreds of genes. By using microarray…”
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Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28 by Amor, David J., Dahl, Hans-Henrik M., Bahlo, Melanie, Bankier, Agnes

“…Keipert syndrome is a rare condition comprising sensorineural deafness associated with facial and digital abnormalities. To date, Keipert syndrome has been…”
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Identification of Three Novel Hearing Loss Mouse Strains with Mutations in the Tmc1 Gene by Manji, Shehnaaz S.M, Miller, Kerry A, Williams, Louise H, Dahl, Hans-Henrik M

“…We report the identification of three new mouse models, baringo , nice , and stitch , with recessively inherited sensorineural deafness due to novel mutations…”
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