Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
Laššuthová, Petra, Šafka Brožková, Dana, Krůtová, Marcela, Mazanec, Radim, Züchner, Stephan, Gonzalez, Michael A, Seeman, Pavel
Published in Brain (London, England : 1878) (01.04.2016)
Published in Brain (London, England : 1878) (01.04.2016)
Get full text
Journal Article
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
Horga, Alejandro, Tomaselli, Pedro J, Gonzalez, Michael A, Laurà, Matilde, Muntoni, Francesco, Manzur, Adnan Y, Hanna, Michael G, Blake, Julian C, Houlden, Henry, Züchner, Stephan, Reilly, Mary M
Published in Neurology (11.10.2016)
Published in Neurology (11.10.2016)
Get more information
Journal Article
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
Strickland, Alleene V., Schabhüttl, Maria, Offenbacher, Hans, Synofzik, Matthis, Hauser, Natalie S., Brunner-Krainz, Michaela, Gruber-Sedlmayr, Ursula, Moore, Steven A., Windhager, Reinhard, Bender, Benjamin, Harms, Matthew, Klebe, Stephan, Young, Peter, Kennerson, Marina, Garcia, Avencia Sanchez Mejias, Gonzalez, Michael A., Züchner, Stephan, Schule, Rebecca, Shy, Michael E., Auer-Grumbach, Michaela
Published in Journal of neurology (01.09.2015)
Published in Journal of neurology (01.09.2015)
Get full text
Journal Article
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease
Motley, William W, Palaima, Paulius, Yum, Sabrina W, Gonzalez, Michael A, Tao, Feifei, Wanschitz, Julia V, Strickland, Alleene V, Löscher, Wolfgang N, De Vriendt, Els, Koppi, Stefan, Medne, Livija, Janecke, Andreas R, Jordanova, Albena, Zuchner, Stephan, Scherer, Steven S
Published in Brain (London, England : 1878) (01.06.2016)
Published in Brain (London, England : 1878) (01.06.2016)
Get full text
Journal Article
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
BONIFERT, Tobias, KARLE, Kathrin N, WOLF, Julia, GONZALEZ, Michael A, SPEZIANI, Fiorella, SCHÜLE, Rebecca, ZÜCHNER, Stephan, SCHÖLS, Ludger, WISSINGER, Bernd, SYNOFZIK, Matthis, TONAGEL, Felix, BATRA, Marion, WILHELM, Christian, THEURER, Yvonne, SCHOENFELD, Caroline, KLUBA, Torsten, KAMENISCH, York, CARELLI, Valerio
Published in Brain (London, England : 1878) (01.08.2014)
Published in Brain (London, England : 1878) (01.08.2014)
Get full text
Journal Article
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation
Swenson, Andrea, Zuchner, Stephan, Grider, Tiffany, Chou, Tsui-Fen, Weihl, Conrad C., Shy, Michael E., Moore, Steven A., Crockett, Cameron D., Jerath, Nivedita U., Gonzalez, Michael A.
Published in Case reports in genetics (01.01.2015)
Published in Case reports in genetics (01.01.2015)
Get full text
Journal Article
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael A., Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques Jr, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
Get full text
Journal Article
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Bowser, Mark J., Hynes, Elizabeth, Grant, Andrew R., Siegert, Rebecca K., Oza, Andrea M., Gonzalez, Michael A., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.
Published in The Journal of molecular diagnostics : JMD (01.11.2018)
Published in The Journal of molecular diagnostics : JMD (01.11.2018)
Get full text
Journal Article
Coupling Computer-Aided Process Simulation and Estimations of Emissions and Land Use for Rapid Life Cycle Inventory Modeling
Smith, Raymond L, Ruiz-Mercado, Gerardo J, Meyer, David E, Gonzalez, Michael A, Abraham, John P, Barrett, William M, Randall, Paul M
Published in ACS sustainable chemistry & engineering (01.05.2017)
Published in ACS sustainable chemistry & engineering (01.05.2017)
Get full text
Journal Article
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands
Balicza, Peter, Grosz, Zoltan, Gonzalez, Michael A, Bencsik, Renata, Pentelenyi, Klara, Gal, Aniko, Varga, Edina, Klivenyi, Peter, Koller, Julia, Züchner, Stephan, Molnar, Judit Maria
Published in Journal of the neurological sciences (15.05.2016)
Published in Journal of the neurological sciences (15.05.2016)
Get full text
Journal Article
A flitting pneumonia in a patient with advanced melanoma
Beatty, Frances E, Bingham, Lucy K, Gonzalez, Michael A
Published in British journal of hospital medicine (London, England : 2005) (02.10.2019)
Published in British journal of hospital medicine (London, England : 2005) (02.10.2019)
Get more information
Journal Article
Linking Molecular Structure via Functional Group to Chemical Literature for Establishing a Reaction Lineage for Application to Alternatives Assessment
Barrett, William M, Takkellapati, Sudhakar, Tadele, Kidus, Martin, Todd M, Gonzalez, Michael A
Published in ACS sustainable chemistry & engineering (15.04.2019)
Published in ACS sustainable chemistry & engineering (15.04.2019)
Get full text
Journal Article
COVID-19 and Cancer: Special Considerations for Patients Receiving Immunotherapy and Immunosuppressive Cancer Therapies
Goldman, Jason D, Gonzalez, Michael A, Rüthrich, Maria Madeleine, Sharon, Elad, von Lilienfeld-Toal, Marie
Published in American Society of Clinical Oncology educational book (01.04.2022)
Published in American Society of Clinical Oncology educational book (01.04.2022)
Get more information
Journal Article
Humoral and cellular responses to SARS-CoV-2 vaccines before and after chimeric antigen receptor–modified T-cell therapy
Gonzalez, Michael A., Bhatti, Atif M., Fitzpatrick, Kristin, Boonyaratanakornkit, Jim, Huang, Meei-Li, Campbell, Victoria L., Hecht, Jessica, Ibrahimi, Sarah, Wanner, Shera N., Green, Damian J., Maloney, David G., Gauthier, Jordan, Cowan, Andrew J., Greninger, Alexander L., Krantz, Elizabeth M., Koelle, David M., Hill, Joshua A.
Published in Blood advances (09.05.2023)
Published in Blood advances (09.05.2023)
Get full text
Journal Article
N-Allylation of amines with allyl acetates using chitosan-immobilized palladium
Nasir Baig, R. B., Vaddula, Buchi R., Gonzalez, Michael A., Varma, Rajender S.
Published in RSC advances (2014)
Published in RSC advances (2014)
Get full text
Journal Article
A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease
Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y., Alexov, Emil, Zuchner, Stephan, Velinov, Milen
Published in Journal of Alzheimer's disease (01.01.2014)
Published in Journal of Alzheimer's disease (01.01.2014)
Get full text
Journal Article