M
Michael A. Gonzalez
Researcher at University of Miami
Publications - 58
Citations - 4252
Michael A. Gonzalez is an academic researcher from University of Miami. The author has contributed to research in topics: Exome sequencing & Hereditary spastic paraplegia. The author has an hindex of 35, co-authored 57 publications receiving 3619 citations. Previous affiliations of Michael A. Gonzalez include Universidad Autónoma Metropolitana & John P. Hussman Institute for Human Genomics.
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Journal ArticleDOI
The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A. Philippakis,Anthony A. Philippakis,Anthony A. Philippakis,Danielle R. Azzariti,Sergi Beltran,Anthony J. Brookes,Catherine A. Brownstein,Catherine A. Brownstein,Michael Brudno,Han G. Brunner,Han G. Brunner,Orion J. Buske,Knox Carey,Cassie Doll,Sergiu Dumitriu,Stephanie O.M. Dyke,Johan T. den Dunnen,Helen V. Firth,Richard A. Gibbs,Marta Girdea,Michael A. Gonzalez,Melissa A. Haendel,Ada Hamosh,Ingrid A. Holm,Ingrid A. Holm,Lijia Huang,Matthew E. Hurles,Ben Hutton,Joel B. Krier,Joel B. Krier,Andriy Misyura,Christopher J. Mungall,Justin Paschall,Benedict Paten,Peter N. Robinson,François Schiettecatte,Nara Sobreira,Ganesh J. Swaminathan,Peter E.M. Taschner,Peter E.M. Taschner,Sharon F. Terry,Nicole L. Washington,Stephan Züchner,Kym M. Boycott,Heidi L. Rehm +44 more
TL;DR: The Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API).
Journal ArticleDOI
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Steffen Syrbe,Ulrike B. S. Hedrich,Erik Riesch,Tania Djémié,Stephan Müller,Rikke S. Møller,Bridget H. Maher,Bridget H. Maher,Laura Hernandez-Hernandez,Laura Hernandez-Hernandez,Matthis Synofzik,Hande Caglayan,Mutluay Arslan,José M. Serratosa,Michael Nothnagel,Patrick May,Roland Krause,Heidrun Löffler,Katja Detert,Thomas Dorn,Heinrich Vogt,Günter Krämer,Ludger Schöls,Primus E. Mullis,Tarja Linnankivi,Anna-Elina Lehesjoki,Katalin Sterbova,Dana Craiu,Dorota Hoffman-Zacharska,Christian Korff,Yvonne G. Weber,Maja Steinlin,Sabina Gallati,Astrid Bertsche,Matthias K. Bernhard,Andreas Merkenschlager,Wieland Kiess,Michael A. Gonzalez,Stephan Züchner,Aarno Palotie,Aarno Palotie,Aarno Palotie,Arvid Suls,Peter De Jonghe,Ingo Helbig,Ingo Helbig,Saskia Biskup,Markus Wolff,Snezana Maljevic,Rebecca Schüle,Rebecca Schüle,Sanjay M. Sisodiya,Sanjay M. Sisodiya,Sarah Weckhuysen,Holger Lerche,Johannes R. Lemke,Johannes R. Lemke +56 more
TL;DR: Next-generation sequencing results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing neurons.
Journal ArticleDOI
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik,Michael A. Gonzalez,Charles Marques Lourenço,Marie Coutelier,Marie Coutelier,Tobias B. Haack,Adriana P. Rebelo,Didier Hannequin,Tim M. Strom,Holger Prokisch,Christoph Kernstock,Alexandra Durr,Ludger Schöls,Marcos M. Lima-Martínez,Amjad Farooq,Rebecca Schüle,Rebecca Schüle,Giovanni Stevanin,Giovanni Stevanin,Wilson Marques,Stephan Züchner +20 more
TL;DR: Findings show that PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system, with damage of this protein causing an extraordinarily broad continuous spectrum of associated neurodegenerative disease.
Journal ArticleDOI
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
Christelle Tesson,Magdalena Nawara,Magdalena Nawara,Magdalena Nawara,Mustafa A. Salih,Rodrigue Rossignol,Maha S. Zaki,Mohammed Al Balwi,Rebecca Schüle,Cyril Mignot,Emilie Obre,Ahmed Bouhouche,Filippo M. Santorelli,Christelle M. Durand,Andrés Caballero Oteyza,Khalid H. El-Hachimi,Abdulmajeed Al Drees,Naima Bouslam,Foudil Lamari,Salah A. Elmalik,Mohammad M. Kabiraj,Mohammed Zain Seidahmed,Typhaine Esteves,Typhaine Esteves,Typhaine Esteves,Marion Gaussen,Marion Gaussen,Marion Gaussen,Marie Lorraine Monin,Marie Lorraine Monin,Marie Lorraine Monin,Gabor Gyapay,Doris Lechner,Michael A. Gonzalez,Christel Depienne,Fanny Mochel,Julie Lavie,Ludger Schöls,Didier Lacombe,Mohamed Yahyaoui,Ibrahim Al Abdulkareem,Stephan Züchner,Atsushi Yamashita,Ali Benomar,Cyril Goizet,Alexandra Durr,Joseph G. Gleeson,Frédéric Darios,Frédéric Darios,Frédéric Darios,Alexis Brice,Giovanni Stevanin +51 more
TL;DR: It is demonstrated in human cells that the HSP pathophysiology includes alteration of mitochondrial architecture and bioenergetics with increased oxidative stress and focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function.
Journal ArticleDOI
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Emily C. Oates,Emily C. Oates,Alexander M. Rossor,Majid Hafezparast,Michael A. Gonzalez,Fiorella Speziani,Daniel G. MacArthur,Daniel G. MacArthur,Monkol Lek,Monkol Lek,E. Cottenie,Mariacristina Scoto,A. Reghan Foley,Matthew E. Hurles,Henry Houlden,Linda Greensmith,Michaela Auer-Grumbach,Thomas R. Pieber,Tim M. Strom,Rebecca Schüle,David N. Herrmann,Janet E. Sowden,Gyula Acsadi,Manoj P. Menezes,Manoj P. Menezes,Nigel F. Clarke,Nigel F. Clarke,Stephan Züchner,Francesco Muntoni,Kathryn N. North,Kathryn N. North,Kathryn N. North,Mary M. Reilly +32 more
TL;DR: Findings provide insight into the mechanism underlying both the static and the slowly progressive clinical features and the motor neuron pathology that characterize BICD2-associated diseases, and underscore the importance of the dynein-dynactin transport pathway in the development and survival of both lower and upper motor neurons.