Search Results - "Parkinson, Michael H"

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study by Jacobi, Heike, MD, du Montcel, Sophie Tezenas, PhD, Bauer, Peter, MD, Giunti, Paola, PhD, Cook, Arron, MBBS, Labrum, Robyn, MD, Parkinson, Michael H, MBBS, Durr, Alexandra, PhD, Brice, Alexis, Prof, Charles, Perrine, MD, Marelli, Cecilia, MD, Mariotti, Caterina, MD, Nanetti, Lorenzo, MD, Panzeri, Marta, MD, Rakowicz, Maria, MD, Sulek, Anna, PhD, Sobanska, Anna, MD, Schmitz-Hübsch, Tanja, MD, Schöls, Ludger, MD, Hengel, Holger, MD, Baliko, Laszlo, MD, Melegh, Bela, Prof, Filla, Alessandro, Prof, Antenora, Antonella, MD, Infante, Jon, MD, Berciano, José, Prof, van de Warrenburg, Bart P, PhD, Timmann, Dagmar, MD, Szymanski, Sandra, MD, Boesch, Sylvia, MD, Kang, Jun-Suk, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof, Molho, Sonia, MSc, Diallo, Alhassane, MD, Klockgether, Thomas, Prof

“…Summary Background Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed,…”
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Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study by Libri, Vincenzo, MD, Yandim, Cihangir, PhD, Athanasopoulos, Stavros, MD, Loyse, Naomi, PhD, Natisvili, Theona, MSc, Law, Pui Pik, MSc, Chan, Ping Kei, PhD, Mohammad, Tariq, MBBS, Mauri, Marta, MSc, Tam, Kin Tung, BSc, Leiper, James, PhD, Piper, Sophie, MSc, Ramesh, Aravind, BM BCh, Parkinson, Michael H, MBBS, Huson, Les, PhD, Giunti, Paola, MD, Festenstein, Richard, Prof

“…Summary Background Friedreich's ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats within intron…”
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Prediction of the disease course in Friedreich ataxia by Hohenfeld, Christian, Terstiege, Ulrich, Dogan, Imis, Giunti, Paola, Parkinson, Michael H., Mariotti, Caterina, Nanetti, Lorenzo, Fichera, Mario, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Schöls, Ludger, Hayer, Stefanie N., Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Rauhut, Holger, Schulz, Jörg B., Reetz, Kathrin

“…We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich…”
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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients by Brown, Alexander F, Parkinson, Michael H, Garcia-Moreno, Hector, Mudanohwo, Ese, Labrum, Robyn, Sweeney, Mary, Giunti, Paola

“…Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present…”
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Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy by Al-Chalabi, Ammar, Dürr, Alexandra, Wood, Nicholas W, Parkinson, Michael H, Camuzat, Agnes, Hulot, Jean-Sébastien, Morrison, Karen E, Renton, Alan, Sussmuth, Sigurd D, Landwehrmeyer, Bernhard G, Ludolph, Albert, Agid, Yves, Brice, Alexis, Leigh, P Nigel, Bensimon, Gilbert

“…Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by parkinsonism, cerebellar ataxia and autonomic dysfunction…”
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Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia by Lad, Meher, Parkinson, Michael H, Rai, Myriam, Pandolfo, Massimo, Bogdanova-Mihaylova, Petya, Walsh, Richard A, Murphy, Sinéad, Emmanuel, Anton, Panicker, Jalesh, Giunti, Paola

“…Pelvic symptoms are distressing symptoms experienced by patients with Friedreich's Ataxia (FRDA). The aim of this study was to describe the prevalence of lower…”
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A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature by Veneziano, Liana, Parkinson, Michael H., Mantuano, Elide, Frontali, Marina, Bhatia, Kailash P., Giunti, Paola

“…Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by early onset, non-progressive chorea, usually caused by mutations in the…”
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Clinical features of Friedreich's ataxia: classical and atypical phenotypes by Parkinson, Michael H., Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Giunti, Paola

“…One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at…”
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Co‐enzyme Q10 and idebenone use in Friedreich's ataxia by Parkinson, Michael H, Schulz, Jörg B., Giunti, Paola

“…Friedreich's ataxia is a debilitating progressive neurodegenerative disease associated with cardiomyopathy and other features. The underlying cause is a…”
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Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study by Reetz, Kathrin, Dogan, Imis, Hilgers, Ralf-Dieter, Giunti, Paola, Parkinson, Michael H, Mariotti, Caterina, Nanetti, Lorenzo, Durr, Alexandra, Ewenczyk, Claire, Boesch, Sylvia, Nachbauer, Wolfgang, Klopstock, Thomas, Stendel, Claudia, Rodríguez de Rivera Garrido, Francisco Javier, Rummey, Christian, Schöls, Ludger, Hayer, Stefanie N, Klockgether, Thomas, Giordano, Ilaria, Didszun, Claire, Rai, Myriam, Pandolfo, Massimo, Schulz, Jörg B, Labrum, Robyn, Thomas-Black, Gilbert, Manso, Katarina, Solanky, Nita, Gellera, Cinzia, Mongelli, Alessia, Castaldo, Anna, Fichera, Mario, Palau, Francesc, O'Callaghan, Mar, Biet, Marie, Monin, Marie Lorraine, Eigentler, Andreas, Indelicato, Elisabetta, Amprosi, Matthias, Radelfahr, Florentine, Bischoff, Almut T., Holtbernd, Florian, Brcina, Nikolina, Hohenfeld, Christian, Koutsis, Georgios, Breza, Marianthi, Bertini, Enrico, Vasco, Gessica

“…The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess…”
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Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay by Parkinson, Michael H, Bartmann, Ana P, Clayton, Lisa M S, Nethisinghe, Suran, Pfundt, Rolph, Chapple, J Paul, Reilly, Mary M, Manji, Hadi, Wood, Nicholas J, Bremner, Fion, Giunti, Paola

“…Thickened retinal nerve fibres have been described in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a rare and difficult to…”
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Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data by Reetz, Kathrin, Prof, Dogan, Imis, PhD, Costa, Ana S, MSc, Dafotakis, Manuel, MD, Fedosov, Kathrin, MSc, Giunti, Paola, MD, Parkinson, Michael H, MBBS, Sweeney, Mary G, BSc, Mariotti, Caterina, MD, Panzeri, Marta, MD, Nanetti, Lorenzo, MD, Arpa, Javier, MD, Sanz-Gallego, Irene, MD, Durr, Alexandra, Prof, Charles, Perrine, MD, Boesch, Sylvia, MD, Nachbauer, Wolfgang, MD, Klopstock, Thomas, MD, Karin, Ivan, MD, Depondt, Chantal, MD, vom Hagen, Jennifer Müller, MD, Schöls, Ludger, Prof, Giordano, Ilaria A, MD, Klockgether, Thomas, Prof, Bürk, Katrin, MD, Pandolfo, Massimo, Prof, Schulz, Jörg B, Prof Dr

“…Summary Background Friedreich's ataxia is a rare autosomal recessive neurodegenerative disorder. Here we report cross-sectional baseline data to establish the…”
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The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia by Yau, Wai Yan, Raposo, Mafalda, Bettencourt, Conceição, Labrum, Robyn, Vasconcelos, João, Parkinson, Michael H, Giunti, Paola, Wood, Nicholas W, Lima, Manuela, Houlden, Henry

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Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations by Thust, Steffi, Veneziano, Liana, Parkinson, Michael H., Bhatia, Kailash P., Mantuano, Elide, Gonzalez-Robles, Cristina, Davagnanam, Indran, Giunti, Paola

“…Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in which conventional neuroimaging has been reported as normal in most…”
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Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers by Rezende Filho, Flávio Moura, Bremner, Fion, Pedroso, José Luiz, Andrade, João Brainer Clares, Marianelli, Bruna Ferraço, Lourenço, Charles Marques, Marques‐Júnior, Wilson, França, Marcondes C., Kok, Fernando, Sallum, Juliana M.F., Parkinson, Michael H., Barsottini, Orlando G., Giunti, Paola

“…ABSTRACT Background Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically…”
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Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias by Jacobi, Heike, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H., Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Sarro, Lidia, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Nachbauer, Wolfgang, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B., Melac, Audrey Tanguy, Diallo, Alhassane, Klockgether, Thomas

“…Introduction To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed…”
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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS by Rezende Filho, Flávio Moura, Parkinson, Michael H., Pedroso, José Luiz, Poh, Roy, Faber, Ingrid, Lourenço, Charles Marques, Júnior, Wilson Marques, França Junior, Marcondes Cavalcante, Kok, Fernando, Sallum, Juliana M. Ferraz, Giunti, Paola, Barsottini, Orlando Graziani Póvoas

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies…”
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SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias by Uebachs, Mischa, Wegner, Philipp, Schaaf, Sebastian, Kugai, Simon, Jacobi, Heike, Kuo, Sheng-Han, Ashizawa, Tetsuo, Fluck, Juliane, Klockgether, Thomas, Faber, Jennifer

“…With SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias…”
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Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia by Diallo, Alhassane, Jacobi, Heike, Cook, Arron, Giunti, Paola, Parkinson, Michael H., Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Castaldo, Anna, Rakowicz, Maria, Rola, Rafal, Sulek, Anna, Schmitz‐Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, Warrenburg, Bart P., Timmann, Dagmar, Boesch, Sylvia, Nachbauer, Wolfgang, Pandolfo, Massimo, Schulz, Jörg B., Bauer, Peter, Jun‐Suk, Kang, Klockgether, Thomas, Tezenas du Montcel, Sophie

“…Background Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective To…”
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When the heart rules the head: ischaemic stroke and intracerebral haemorrhage complicating infective endocarditis by Jiad, Estabrak, Gill, Sumanjit K, Krutikov, Maria, Turner, David, Parkinson, Michael H, Curtis, Carmel, Werring, David J

“…Sir William Osler meticulously described the clinical manifestations of infective endocarditis in 1885, concluding that: 'few diseases present greater…”
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