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1. The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

Author

Vishnu, Venugopalan Y., Lemmers, Richard J. L. F., Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J., Kretkiewicz, Marcelina M., Macken, William L., Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M., Bhatia, Rohit, Wilson, Lindsay A., Houlden, Henry, Hanna, Michael G., Bugiardini, Enrico, van der Maarel, Silvère M., and Srivastava, M. V. Padma

Published
2024
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2. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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3. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Author

Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, and Ravenscroft, Gianina

Published
2024
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5. De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy

Author

Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, and Männikkö, Roope

Subjects
Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveMutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies.MethodsFollowing clinical diagnosis, we performed whole exome sequencing of the index cases and their parents. Identified channel variants were expressed in Xenopus oocytes and their functional properties assessed using two-electrode voltage clamp.ResultsWe identified novel de novo variants in KCNA6 in four unrelated individuals variably affected with neurodevelopmental disorders and seizures with onset in the first year of life. Three of the four identified mutations affect the pore-lining S6 α-helix of KV 1.6. A prominent finding of functional characterization in Xenopus oocytes was that the channel variants showed only minor effects on channel activation but slowed channel closure and shifted the voltage dependence of deactivation in a hyperpolarizing direction. Channels with a mutation affecting the S6 helix display dominant effects on channel deactivation when co-expressed with wild-type KV 1.6 or KV 1.1 subunits.SignificanceThis is the first report of de novo nonsynonymous variants in KCNA6 associated with neurological or any clinical features. Channel variants showed a consistent effect on channel deactivation, slowing the rate of channel closure following normal activation. This specific gain-of-function feature is likely to underlie the neurological phenotype in our patients. Our data highlight KCNA6 as a novel channelopathy gene associated with early infantile epileptic phenotypes and neurodevelopmental anomalies.

Published
2023

6. Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial

Author

Granit, Volkan, Steele, Julie, Levy, Wendy, Paredes, Maria Elena, Hernandez, Jessica, Bilsker, Martin, Szacka, Katarzyna, Ronert, Adam, Jablońska, Dorota, Łuczak, Alina Zuzanna, Chaverri, Delia, Janse van Mantgem, Mark R, Bunte, Tommy M, Broere, Bianca, de Fockert, Arianne, Sanchez-Tejerina, Daniel, Landabaso, Carmen, Calvo, Andrea, Moglia, Cristina, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Salamone, Paolina, Fuda, Giuseppe, DeMarco, Giovanni, Casale, Federico, ME Forsberg, Karin, Winroth, Ivar, Almgren Stenberg, Erica, Holmgren, Monica, Amador, Maria del Mar, Lenglet, Timothee, Querin, Giorgia, Coudoin, Sylvie, Pavlakis, Pantelis, Holzberg, Shara, Sideri, Riccardo, Marinou, Kalliopi, Czarnecki, Maciej, Ługiewicz, Renata, Biel-Czarnecka, Marta, Boczkowska, Marcelina, Schotte, Caroline, Vynckier, Jan, Van Daele, Sien, Claeys, Thomas, Delmotte, Koen, Swinnen, Bart, Serrien, Anouk, D'Hondt, Ann, Lamaire, Nikita, Debien, Elisa, Jones, Sarah, Vachon, Chris, Grogan, James, Solorzano, Guillermo, Crowell, Allison, Rakocevic, Goran, Wagoner, Mary, Alma, Osmanovic, Flavia, Wiehler, Sonja, Körner, Olivia, Schreiber-Katz, Camilla, Wohnrade, Anastasia, Sarikidi, Carola, Kassebaum, Chantal, Fischer, Adamo, Ashley, Turcotte, Nicole, Duncan, Jessie, Turner, Ivone, Elman, Lauren, Massie, Rami, Berube, Maxime, Saunders, Natalie, Salmon, Kristiana, Foucher, Juliette, Agessandro, Abrahao, Shirley, Pham, Jahan, Mookshah, Phung, Liane, Statland, Jeffrey, Jawdat, Omar, Dimachkie, Mazen, Pasnoor, Mamatha, Farmakidis, Constantine, Heim, Andrew, Lillig, Katie, Lackey, Alyssa, Weber, Markus, Kurz, Martina, Levine, Todd, Benatar, Michael, Hansen, Thomas, Rom, Dror, Geist, Marie A, Blaettler, Thomas, Camu, William, Kuzma-Kozakiewicz, Magdalena, van den Berg, Leonard H, Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M, Pradat, Pierre-Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Elliott, Matthew, Petri, Susanne, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A, Meyer, Thomas, Hanna, Michael G, Quinn, Colin, Genge, Angela, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C, Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M, Turner, Martin R, Wuu, Joanne, Bennett, Richard, Dang, Hoang, and Sundgreen, Claus

Published
2024
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11. Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.

Author

Amato, Anthony A, Hanna, Michael G, Machado, Pedro M, Badrising, Umesh A, Chinoy, Hector, Benveniste, Olivier, Karanam, Ananda Krishna, Wu, Min, Tankó, László B, Schubert-Tennigkeit, Agnes Annette, Papanicolaou, Dimitris A, Lloyd, Thomas E, Needham, Merrilee, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James AL, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Aoki, Masashi, Katsuno, Masahisa, Morihata, Hirokazu, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie SL, Vissing, John, and Zhang Auberson, Lixin

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Accidental Falls, Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Humanized, Double-Blind Method, Female, Humans, Male, Middle Aged, Muscle Strength, Myositis, Inclusion Body, Time, Treatment Outcome, Walk Test, RESILIENT Study Extension Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM).MethodsParticipants (aged 36-85 years) who completed the core study (RESILIENT [Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility in sIBM Patients]) were invited to join an extension study. Individuals continued on the same treatment as in the core study (10 mg/kg, 3 mg/kg, 1 mg/kg bimagrumab or matching placebo administered as IV infusions every 4 weeks). The co-primary outcome measures were 6-minute walk distance (6MWD) and safety.ResultsBetween November 2015 and February 2017, 211 participants entered double-blind placebo-controlled period of the extension study. Mean change in 6MWD from baseline was highly variable across treatment groups, but indicated progressive deterioration from weeks 24-104 in all treatment groups. Overall, 91.0% (n = 142) of participants in the pooled bimagrumab group and 89.1% (n = 49) in the placebo group had ≥1 treatment-emergent adverse event (AE). Falls were slightly higher in the bimagrumab 3 mg/kg group vs 10 mg/kg, 1 mg/kg, and placebo groups (69.2% [n = 36 of 52] vs 56.6% [n = 30 of 53], 58.8% [n = 30 of 51], and 61.8% [n = 34 of 55], respectively). The most frequently reported AEs in the pooled bimagrumab group were diarrhea 14.7% (n = 23), involuntary muscle contractions 9.6% (n = 15), and rash 5.1% (n = 8). Incidence of serious AEs was comparable between the pooled bimagrumab and the placebo group (18.6% [n = 29] vs 14.5% [n = 8], respectively).ConclusionExtended treatment with bimagrumab up to 2 years produced a good safety profile and was well-tolerated, but did not provide clinical benefits in terms of improvement in mobility. The extension study was terminated early due to core study not meeting its primary endpoint.Clinical trial registrationClinicaltrials.gov identifier NCT02573467.Classification of evidenceThis study provides Class IV evidence that for patients with sIBM, long-term treatment with bimagrumab was safe, well-tolerated, and did not provide meaningful functional benefit. The study is rated Class IV because of the open-label design of extension treatment period 2.

Published
2021

12. Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial

Author

Dimachkie, Mazen, Statland, Jeffrey, Pasnoor, Mamatha, Jawdat, Omar, Heim, Andrew, Ciersdorff, Ali, Sasidharan, Sandhya, Currence, Melissa, Levine, Todd, Otutoa, Rebecca, Cooper, Angelina, Mozaffar, Tahseen, Habib, Ali, Cauchi, Jonathan, Ung, Shannon, Mathew, Veena, Hernandez, Isela, Gibson, Summer, Bromberg, Mark, Mahoney, Kyle, Neate, Crystal, Janecki, Teresa, Papadakis, Mike, Freimer, Miriam, Kaschalk, MacKenzie, Heintzman, Sarah, Wicklund, Matthew, Baines, Brenna, Vareldzis, Alexa, Hyslop, Emily, Blume, Brianna, Ciafaloni, Emma, Luebbe, Elizabeth, Eichinger, Katy, Martens, William, Gregory, Stephanie, Janciuras, Joanne, Amato, Anthony, Doughty, Christopher, Roe, Kristen, Flynn, Patricia, Russo, Emily, Lloyd, Thomas, Albayda, Jemima, Tiniakou, Eleni, Thomas, Simone, Jones, Sarah, Solorzano, Guillermo, Elliott, Matthew, Burns, Ted, Crowell, Allison, Eggleston, Deborah, Wagoner, Mary, Shaibani, Aziz, Oates, Chantae, Machado, Pedro, Hanna, Michael, Greensmith, Linda, Ahmed, Mhoriam, Vivekanandam, Vinojini, Appleby, Matthew, Ransley, George, Eshun, Edwin Eshun, Skorupinska, Iwona, Germain, Louise, Laxa, Ana Marie, Pontes, Joana Roca, Bellin, Anna, Anifowoshe, Dolapo, Machado, Pedro M, McDermott, Michael P, Blaettler, Thomas, Sundgreen, Claus, Amato, Anthony A, Gibson, Summer B, Jones, Sarah M, Levine, Todd D, Lloyd, Thomas E, Shaibani, Aziz I, Rosholm, Anders, Carstensen, Tim Dehli, Bonefeld, Karen, Jørgensen, Anders Nørkær, Phonekeo, Karina, Heim, Andrew J, Herbelin, Laura, Barohn, Richard J, Hanna, Michael G, and Dimachkie, Mazen M

Published
2023
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13. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Author

Wijngaard, Robin, Demidov, German, O’Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter, de Boer, Elke, Vissers, Lisenka E. L. M., Kamsteeg, Erik-Jan, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, te Paske, Iris B. A. W., de Voer, Richarda M., Faivre, Laurence, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Vitobello, Antonio, Chevarin, Martin, Straub, Volker, Töpf, Ana, van der Kooi, Anneke J., Magrinelli, Francesca, Rocca, Clarissa, Hanna, Michael G., Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, and Gilissen, Christian

Published
2024
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18. Climate change and disorders of the nervous system

Author

Sisodiya, Sanjay M, primary, Gulcebi, Medine I, additional, Fortunato, Francesco, additional, Mills, James D, additional, Haynes, Ethan, additional, Bramon, Elvira, additional, Chadwick, Paul, additional, Ciccarelli, Olga, additional, David, Anthony S, additional, De Meyer, Kris, additional, Fox, Nick C, additional, Davan Wetton, Joanna, additional, Koltzenburg, Martin, additional, Kullmann, Dimitri M, additional, Kurian, Manju A, additional, Manji, Hadi, additional, Maslin, Mark A, additional, Matharu, Manjit, additional, Montgomery, Hugh, additional, Romanello, Marina, additional, Werring, David J, additional, Zhang, Lisa, additional, Friston, Karl J, additional, and Hanna, Michael G, additional

Published
2024
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20. Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4

Author

Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B, Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G, Männikkö, Roope, Udd, Bjarne, and Cannon, Stephen C

Subjects
Human Genome, Rare Diseases, Pediatric, Congenital Structural Anomalies, Genetics, 2.1 Biological and endogenous factors, Aetiology, Adult, Animals, Electromyography, Female, Finland, Humans, Laryngismus, Loss of Function Mutation, Male, Muscle Hypotonia, Muscle, Skeletal, Mutation, Missense, Myasthenic Syndromes, Congenital, Myotonia, NAV1.4 Voltage-Gated Sodium Channel, Oocytes, Patch-Clamp Techniques, Pedigree, Exome Sequencing, Xenopus, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A.MethodsA combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium channels expressed in fibroblasts (HEK cells) and Xenopus oocytes.ResultsMissense mutations of the same residue in the skeletal muscle sodium channel, R1460 of NaV1.4, were identified in a family and a single patient of Finnish origin (p.R1460Q) and a proband in the United States (p.R1460W). Congenital hypotonia, breathing difficulties, bulbar weakness, and fatigability had recessive inheritance (homozygous p.R1460W or compound heterozygous p.R1460Q and p.R1059X), whereas carriers were either asymptomatic (p.R1460W) or had myotonia (p.R1460Q). Sodium currents conducted by mutant channels showed unusual mixed defects with both loss-of-function (reduced amplitude, hyperpolarized shift of inactivation) and gain-of-function (slower entry and faster recovery from inactivation) changes.ConclusionsNovel mutations in families with myasthenic congenital myopathy have been identified at p.R1460 of the sodium channel. Recessive inheritance, with experimentally established loss-of-function, is a consistent feature of sodium channel based myasthenia, whereas the mixed gain of function for p.R1460 may also cause susceptibility to myotonia.

Published
2019

21. Cardiac Outcomes in Adults With Mitochondrial Diseases

Author

Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, and Wahbi, Karim

Published
2022
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23. Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Author

Macken, William L., Falabella, Micol, McKittrick, Caroline, Pizzamiglio, Chiara, Ellmers, Rebecca, Eggleton, Kelly, Woodward, Cathy E., Patel, Yogen, Labrum, Robyn, Phadke, Rahul, Reilly, Mary M., DeVile, Catherine, Sarkozy, Anna, Footitt, Emma, Davison, James, Rahman, Shamima, Houlden, Henry, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G., Vandrovcova, Jana, and Pitceathly, Robert D. S.

Published
2022
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27. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Author

Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, and Gleeson, Joseph G

Subjects
Biochemistry and Cell Biology, Genetics, Biological Sciences, Epilepsy, Pediatric, Brain Disorders, Neurosciences, Rare Diseases, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, ADP-ribosylation, ADPRHL2, ARH3, SUDEP, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stress, poly-ADP ribose, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.

Published
2018

28. Review of the Diagnosis and Treatment of Periodic Paralysis

Author

Statland, Jeffrey M, Fontaine, Bertrand, Hanna, Michael G, Johnson, Nicholas E, Kissel, John T, Sansone, Valeria A, Shieh, Perry B, Tawil, Rabi N, Trivedi, Jaya, Cannon, Stephen C, and Griggs, Robert C

Subjects
Medical Physiology, Biomedical and Clinical Sciences, Prevention, Nutrition, Genetics, Rare Diseases, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Acetazolamide, Andersen Syndrome, Anti-Arrhythmia Agents, Behavior Therapy, Carbonic Anhydrase Inhibitors, Diuretics, Diuretics, Potassium Sparing, Humans, Hydrochlorothiazide, Hypokalemic Periodic Paralysis, Paralyses, Familial Periodic, Paralysis, Hyperkalemic Periodic, Potassium, acetazolamide, Andersen-Tawil syndrome, channelopathies, dichlorphenamide, periodic paralyses, review, treatment, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
Abstract

Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.

Published
2018

29. Kennedy’s disease

Author

Devine, Helen, primary, Solomons, Matthew, additional, Zampedri, Luca, additional, Hanna, Michael G, additional, Rinaldi, Carlo, additional, Fratta, Pietro, additional, and Jayaseelan, Dipa, additional

Published
2024
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30. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author

Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.

Published
2021
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31. TFG facilitates outer coat disassembly on COPII transport carriers to promote tethering and fusion with ER–Golgi intermediate compartments

Author

Hanna, Michael G, Block, Samuel, Frankel, EB, Hou, Feng, Johnson, Adam, Yuan, Lin, Knight, Gavin, Moresco, James J, Yates, John R, Ashton, Randolph, Schekman, Randy, Tong, Yufeng, and Audhya, Anjon

Subjects
Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Biological Transport, COP-Coated Vesicles, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Carrier Proteins, Endoplasmic Reticulum, Female, Golgi Apparatus, Male, Protein Transport, Rats, Sprague-Dawley, Vesicular Transport Proteins, COPII, Trk-fused gene, tether, coat disassembly, endoplasmic reticulum
Abstract

The conserved coat protein complex II (COPII) mediates the initial steps of secretory protein trafficking by assembling onto subdomains of the endoplasmic reticulum (ER) in two layers to generate cargo-laden transport carriers that ultimately fuse with an adjacent ER-Golgi intermediate compartment (ERGIC). Here, we demonstrate that Trk-fused gene (TFG) binds directly to the inner layer of the COPII coat. Specifically, the TFG C terminus interacts with Sec23 through a shared interface with the outer COPII coat and the cargo receptor Tango1/cTAGE5. Our findings indicate that TFG binding to Sec23 outcompetes these other associations in a concentration-dependent manner and ultimately promotes outer coat dissociation. Additionally, we demonstrate that TFG tethers vesicles harboring the inner COPII coat, which contributes to their clustering between the ER and ERGIC in cells. Together, our studies define a mechanism by which COPII transport carriers are retained locally at the ER/ERGIC interface after outer coat disassembly, which is a prerequisite for fusion with ERGIC membranes.

Published
2017

34. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease

Author

Horga, Alejandro, Manole, Andreea, Mitchell, Alice L., Bugiardini, Enrico, Hargreaves, Iain P., Mowafi, Walied, Bettencourt, Conceição, Blakely, Emma L., He, Langping, Polke, James M., Woodward, Catherine E., Dalla Rosa, Ilaria, Shah, Sachit, Pittman, Alan M., Quinlivan, Ros, Reilly, Mary M., Taylor, Robert W., Holt, Ian J., Hanna, Michael G., Pitceathly, Robert D. S., Spinazzola, Antonella, and Houlden, Henry

Published
2021
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37. Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis

Author

Sansone, Valeria A, Burge, James, McDermott, Michael P, Smith, Patty C, Herr, Barbara, Tawil, Rabi, Pandya, Shree, Kissel, John, Ciafaloni, Emma, Shieh, Perry, Ralph, Jeffrey W, Amato, Antony, Cannon, Steve C, Trivedi, Jaya, Barohn, Richard, Crum, Brian, Mitsumoto, Hiroshi, Pestronk, Alan, Meola, Giovanni, Conwit, Robin, Hanna, Michael G, and Griggs, Robert C

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Carbonic Anhydrase Inhibitors, Dichlorphenamide, Double-Blind Method, Female, Follow-Up Studies, Humans, Male, Middle Aged, Paralyses, Familial Periodic, Muscle Study Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo determine the short-term and long-term effects of dichlorphenamide (DCP) on attack frequency and quality of life in hyperkalemic (HYP) and hypokalemic (HOP) periodic paralysis.MethodsTwo multicenter randomized, double-blind, placebo-controlled trials lasted 9 weeks (Class I evidence), followed by a 1-year extension phase in which all participants received DCP. Forty-four HOP and 21 HYP participants participated. The primary outcome variable was the average number of attacks per week over the final 8 weeks of the double-blind phase.ResultsThe median attack rate was lower in HOP participants on DCP than in participants on placebo (0.3 vs 2.4, p = 0.02). The 9-week mean change in the Physical Component Summary score of the Short Form-36 was also better in HOP participants receiving DCP (treatment effect = 7.29 points, 95% confidence interval 2.26 to 12.32, p = 0.006). The median attack rate was also lower in HYP participants on DCP (0.9 vs 4.8) than in participants on placebo, but the difference in median attack rate was not significant (p = 0.10). There were no significant effects of DCP on muscle strength or muscle mass in either trial. The most common adverse events in both trials were paresthesia (47% DCP vs 14% placebo, both trials combined) and confusion (19% DCP vs 7% placebo, both trials combined).ConclusionsDCP is effective in reducing the attack frequency, is safe, and improves quality of life in HOP periodic paralysis.Classification of evidenceThese studies provide Class I evidence that DCP significantly reduces attack frequency in HOP but lacked the precision to support either efficacy or lack of efficacy of DCP in HYP.

Published
2016

38. VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1

Author

Ugur, Berrak, primary, Schueder, Florian, additional, Shin, Jimann, additional, Hanna, Michael G., additional, Wu, Yumei, additional, Leonzino, Marianna, additional, Su, Maohan, additional, McAdow, Anthony R., additional, Wilson, Catherine, additional, Postlethwait, John, additional, Solnica-Krezel, Lilianna, additional, Bewersdorf, Joerg, additional, and Camilli, Pietro De, additional

Published
2023
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39. Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

Author

Henning, Franclo, Naidu, Kireshnee, Record, Christopher J., Dominik, Natalia, Vandrovcova, Jana, Lubbe, Frans, Dercksen, Marli, Wilson, Lindsay A., Van Der Westhuizen, Francois, Reilly, Mary M., Houlden, Henry, Hanna, Michael G., and Carr, Jonathan

Subjects
HEARING disorders, NEUROMUSCULAR diseases, NEUROLOGICAL disorders, NERVE conduction studies, EXTENDED families, TREMOR, MOVEMENT disorders
Abstract

The article discusses peroxisome biogenesis disorders caused by pathogenic variants in the PEX11B gene, leading to a range of symptoms including congenital cataracts, intellectual disability, and movement disorders such as tremor, dystonia, and ataxia. A case study of a male patient and his sister with these disorders is presented, highlighting the genetic variant responsible for their condition. The study suggests that late-onset PBDs may have milder clinical features and emphasizes the importance of advanced diagnostic testing for accurate diagnosis. [Extracted from the article]

Published
2024
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40. 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

Author

Pantic, Boris, Ives, Daniel, Mennuni, Mara, Perez-Rodriguez, Diego, Fernandez-Pelayo, Uxoa, Lopez de Arbina, Amaia, Muñoz-Oreja, Mikel, Villar-Fernandez, Marina, Dang, Thanh-mai Julie, Vergani, Lodovica, Johnston, Iain G., Pitceathly, Robert D. S., McFarland, Robert, Hanna, Michael G., Taylor, Robert W., Holt, Ian J., and Spinazzola, Antonella

Published
2021
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41. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Author

Horga, Alejandro, Woodward, Catherine E., Mills, Alberto, Pareés, Isabel, Hargreaves, Iain P., Brown, Ruth M., Bugiardini, Enrico, Brooks, Tony, Manole, Andreea, Remzova, Elena, Rahman, Shamima, Reilly, Mary M., Houlden, Henry, Sweeney, Mary G., Brown, Garry K., Polke, James M., Gago, Federico, Parton, Matthew J., Pitceathly, Robert D. S., and Hanna, Michael G.

Published
2019
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42. Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome

Author

Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Munro, Benjamin, Abdel-Hamid, Mohamed S., Sonmezler, Ece, Macken, William L., Lu, Shanti, Tilokani, Lisa, Flannery, Padraig J., Pope, Simon A.S., Heales, Simon J.R., Hammadi, Dania B.H., Alston, Charlotte L., Taylor, Robert W., Lochmuller, Hanns, Chronopoulou, Efstathia, Pierre, Germaine, Maroofian, Reza, Hanna, Michael G., Taanman, Jan-Willem, Hiz, Semra, Oktay, Yavuz, Zaki, Maha S., Horvath, Rita, Prudent, Julien, and Pitceathly, Robert D.S.

Published
2024
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43. Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

Author

Hanna, Michael G, Badrising, Umesh A, Benveniste, Olivier, Lloyd, Thomas E, Needham, Merrilee, Chinoy, Hector, Aoki, Masashi, Machado, Pedro M, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James A L, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Katsuno, Masahisa, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie S L, Vissing, John, Auberson, Lixin Zhang, Wu, Min, de Vera, Ana, Papanicolaou, Dimitris A, and Amato, Anthony A

Published
2019
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46. Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

Author

Efthymiou, Stephanie, primary, Lemmers, Richard J. L. F., additional, Vishnu, Venugopalan Y., additional, Dominik, Natalia, additional, Perrone, Benedetta, additional, Facchini, Stefano, additional, Vegezzi, Elisa, additional, Ravaglia, Sabrina, additional, Wilson, Lindsay, additional, van der Vliet, Patrick J., additional, Mishra, Rinkle, additional, Reyaz, Alisha, additional, Ahmad, Tanveer, additional, Bhatia, Rohit, additional, Polke, James M., additional, Srivastava, Mv Padma, additional, Cortese, Andrea, additional, Houlden, Henry, additional, van der Maarel, Silvère M., additional, Hanna, Michael G., additional, and Bugiardini, Enrico, additional

Published
2023
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47. Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial

Author

Machado, Pedro M, primary, McDermott, Michael P, additional, Blaettler, Thomas, additional, Sundgreen, Claus, additional, Amato, Anthony A, additional, Ciafaloni, Emma, additional, Freimer, Miriam, additional, Gibson, Summer B, additional, Jones, Sarah M, additional, Levine, Todd D, additional, Lloyd, Thomas E, additional, Mozaffar, Tahseen, additional, Shaibani, Aziz I, additional, Wicklund, Matthew, additional, Rosholm, Anders, additional, Carstensen, Tim Dehli, additional, Bonefeld, Karen, additional, Jørgensen, Anders Nørkær, additional, Phonekeo, Karina, additional, Heim, Andrew J, additional, Herbelin, Laura, additional, Barohn, Richard J, additional, Hanna, Michael G, additional, Dimachkie, Mazen M, additional, Dimachkie, Mazen, additional, Statland, Jeffrey, additional, Pasnoor, Mamatha, additional, Jawdat, Omar, additional, Heim, Andrew, additional, Ciersdorff, Ali, additional, Sasidharan, Sandhya, additional, Currence, Melissa, additional, Levine, Todd, additional, Otutoa, Rebecca, additional, Cooper, Angelina, additional, Habib, Ali, additional, Cauchi, Jonathan, additional, Ung, Shannon, additional, Mathew, Veena, additional, Hernandez, Isela, additional, Gibson, Summer, additional, Bromberg, Mark, additional, Mahoney, Kyle, additional, Neate, Crystal, additional, Janecki, Teresa, additional, Papadakis, Mike, additional, Kaschalk, MacKenzie, additional, Heintzman, Sarah, additional, Baines, Brenna, additional, Vareldzis, Alexa, additional, Hyslop, Emily, additional, Blume, Brianna, additional, Luebbe, Elizabeth, additional, Eichinger, Katy, additional, Martens, William, additional, Gregory, Stephanie, additional, Janciuras, Joanne, additional, Amato, Anthony, additional, Doughty, Christopher, additional, Roe, Kristen, additional, Flynn, Patricia, additional, Russo, Emily, additional, Lloyd, Thomas, additional, Albayda, Jemima, additional, Tiniakou, Eleni, additional, Thomas, Simone, additional, Jones, Sarah, additional, Solorzano, Guillermo, additional, Elliott, Matthew, additional, Burns, Ted, additional, Crowell, Allison, additional, Eggleston, Deborah, additional, Wagoner, Mary, additional, Shaibani, Aziz, additional, Oates, Chantae, additional, Machado, Pedro, additional, Hanna, Michael, additional, Greensmith, Linda, additional, Ahmed, Mhoriam, additional, Vivekanandam, Vinojini, additional, Appleby, Matthew, additional, Ransley, George, additional, Eshun, Edwin Eshun, additional, Skorupinska, Iwona, additional, Germain, Louise, additional, Laxa, Ana Marie, additional, Pontes, Joana Roca, additional, Bellin, Anna, additional, and Anifowoshe, Dolapo, additional

Published
2023
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48. Spider toxin inhibits gating pore currents underlying periodic paralysis

Author

Männikkö, Roope, Shenkarev, Zakhar O., Thor, Michael G., Berkut, Antonina A., Myshkin, Mikhail Yu, Paramonov, Alexander S., Kulbatskii, Dmitrii S., Kuzmin, Dmitry A., Castañeda, Marisol Sampedro, King, Louise, Wilson, Emma R., Lyukmanova, Ekaterina N., Kirpichnikov, Mikhail P., Schorge, Stephanie, Bosmans, Frank, Hanna, Michael G., Kullmann, Dimitri M., and Vassilevski, Alexander A.

Published
2018

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