Výsledky vyhledávání - Michael C. Kruer
- Zobrazuji výsledky 1 - 20 z 42
- Přejít na další stránku
-
1
The Neuropathology of Neurodegeneration with Brain Iron Accumulation Autor Michael C. Kruer
Vydáno 2013Revisão -
2
Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm Autor Michael C. Kruer, Nathalie Boddaert
Vydáno 2012Revisão -
3
The genetic basis of cerebral palsy Autor Michael Fahey, Alastair H. MacLennan, Doris Kretzschmar, Jozef Gécz, Michael C. Kruer
Vydáno 2017Revisão -
4
Variability in Cerebral Palsy Diagnosis Autor Bhooma R. Aravamuthan, Darcy Fehlings, Sheetal Shetty, Michael Fahey, Laura Gilbert, Ann Tilton, Michael C. Kruer
Vydáno 2021Artigo -
5
-
6
-
7
-
8
-
9
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration Autor Michael C. Kruer, M. Hiken, Allison Gregory, Alessandro Malandrini, David G. Clark, P. Hogarth, Marjorie R. Grafe, Susan J. Hayflick, R. L. Woltjer
Vydáno 2011Artigo -
10
Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation Autor Michael C. Kruer, Nathalie Boddaert, Susanne A. Schneider, Henry Houlden, Kailash P. Bhatia, Allison Gregory, James C. Anderson, William D. Rooney, Penelope Hogarth, Susan J. Hayflick
Vydáno 2011Revisão -
11
Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature Autor Abolfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola Paoli Monteiro, Fernando Kok, Anneke T. Vulto‐van Silfhout, Michael C. Kruer, Michael R. Bowl, Barbara Vona
Vydáno 2024Revisão -
12
-
13
Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies Autor Helena Ariño, Romana Höftberger, Núria Gresa‐Arribas, Eugenia Martínez‐Hernández, Thaís Armangué, Michael C. Kruer, Javier Arpa, Julio Domingo, Bojan Rojc, Luís Bataller, Albert Saiz, Josep Dalmau, Francesc Graus
Vydáno 2015Artigo -
14
Identification of critical regions for clinical features of distal 10q deletion syndrome Autor S A Yatsenko, M.D. and Colin M. Roberts Michael C. Kruer, PI Bader, D Corzo, Jane L. Schuette, CE Keegan, Beata Nowakowska, Sandra Peacock, WW Cai, DA Peiffer, KL Gunderson, Zhishuo Ou, AC Chinault, SW Cheung
Vydáno 2009Artigo -
15
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease Autor Jennifer Hirst, James R. Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H. Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stévanin, Craig Blackstone, Michael C. Kruer, Margaret S. Robinson
Vydáno 2015Artigo -
16
Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) Autor Michael C. Kruer, Coro Paisán‐Ruíz, Nathalie Boddaert, Moon Young Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Münnich, Stéphanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick
Vydáno 2010Artigo -
17
Mutations in gamma adducin are associated with inherited cerebral palsy Autor Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta, Robert D. Steiner, Ellen Cottenie, Lynn Sanford, Mark Merkens, Barry S. Russman, Peter A. Blasco, Guang Fan, Jeffrey M. Pollock, Sarah Green, Randall L. Woltjer, Catherine Mooney, Doris Kretzschmar, Coro Paisán‐Ruiz, Henry Houlden
Vydáno 2013Artigo -
18
Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48) Autor Jennifer Hirst, Marianna Madeo, Katrien Smets, James R. Edgar, Lüdger Schöls, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B. Datiles, Ricardo H. Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone, Michael C. Kruer
Vydáno 2016Artigo -
19
Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of anti... Autor Mar Petit‐Pedrol, Thaís Armangué, Xiaoyu Peng, Luís Bataller, Tania Cellucci, Rebecca Davis, Lindsey McCracken, Eugenia Martínez‐Hernández, Warren Mason, Michael C. Kruer, David G. Ritacco, Wolfgang Grisold, Brandon Meaney, Carmen Alcalá, Peter A.E. Sillevis-Smitt, Maarten J. Titulaer, Rita J. Balice‐Gordon, Francesc Graus, Josep Dalmau
Vydáno 2014Artigo -
20
New NBIA subtype Autor Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry‐Kravis, Nicola Foulds, Simon Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay C. Reese, Randall L. Woltjer, Susan J. Hayflick
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Genetics
Gene
Phenotype
Neuroscience
Disease
Internal medicine
Psychiatry
Pathology
Cerebral palsy
Pediatrics
Hereditary spastic paraplegia
Mutation
Neurodegeneration
Psychology
Bioinformatics
Exome sequencing
Spastic
Immunology
Physical medicine and rehabilitation
Physical therapy
Receptor
Ataxia
Cohort
Dystonia
Epilepsy
Paraplegia
Spinal cord
Basal ganglia