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Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil.
Published in:
Clinical Genetics, 2024, v. 106, n. 6, p. 721, doi. 10.1111/cge.14602
By:
- Fussiger, Helena;
- Lima, Pedro Lucas G. S. B.;
- Souza, Paulo V. S.;
- Freua, Fernando;
- Husny, Antonette S. E.;
- Leão, Emília K. E. A.;
- Braga‐Neto, Pedro;
- Kok, Fernando;
- Lynch, David S.;
- Saute, Jonas A. M.;
- Nóbrega, Paulo R.
Publication type:
Article
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Published in:
Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00456
By:
- Bugiardini, Enrico;
- Morrow, Jasper M.;
- Shah, Sachit;
- Wood, Claire L.;
- Lynch, David S.;
- Pitmann, Alan M.;
- Reilly, Mary M.;
- Houlden, Henry;
- Matthews, Emma;
- Parton, Matt;
- Hanna, Michael G.;
- Straub, Volker;
- Yousry, Tarek A.
Publication type:
Article
An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 10, p. 3271, doi. 10.1093/brain/awae261
By:
- Chataway, Jeremy;
- Wade, Charles;
- Murphy, Elaine;
- Lynch, David S
Publication type:
Article
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Published in:
2018
By:
- Gurgel-Giannetti, Juliana;
- Lynch, David S;
- Paiva, Anderson Rodrigues Brandão de;
- Lucato, Leandro Tavares;
- Yamamoto, Guilherme;
- Thomsen, Christer;
- Basu, Somsuvro;
- Freua, Fernando;
- Giannetti, Alexandre Varella;
- Assis, Bruno Della Ripa de;
- Paiva, Anderson Rodrigues Brandão de;
- Ribeiro, Mara Dell Ospedale;
- Barcelos, Isabella;
- Sayão Souza, Katiane;
- Monti, Fernanda;
- Melo, Uirá Souto;
- Amorim, Simone;
- Silva, Leonardo G L;
- Macedo-Souza, Lúcia Inês;
- Vianna-Morgante, Angela M
Publication type:
journal article
Clinical and genetic characterization of leukoencephalopathies in adults.
Published in:
2017
By:
- Lynch, David S.;
- de Paiva, Anderson Rodrigues Brandão;
- Wei Jia Zhang;
- Bugiardini, Enrico;
- Freua, Fernando;
- Lucato, Leandro Tavares;
- Macedo-Souza, Lucia Inês;
- Lakshmanan, Rahul;
- Kinsella, Justin A.;
- Merwick, Aine;
- Rossor, Alexander M.;
- Bajaj, Nin;
- Herron, Brian;
- McMonagle, Paul;
- Morrison, Patrick J.;
- Hughes, Deborah;
- Pittman, Alan;
- Laura, Matilde;
- Reilly, Mary M.;
- Warren, Jason D.
Publication type:
journal article
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Published in:
2016
By:
- Kara, Eleanna;
- Tucci, Arianna;
- Manzoni, Claudia;
- Lynch, David S.;
- Elpidorou, Marilena;
- Bettencourt, Conceicao;
- Chelban, Viorica;
- Manole, Andreea;
- Hamed, Sherifa A.;
- Haridy, Nourelhoda A.;
- Federoff, Monica;
- Preza, Elisavet;
- Hughes, Deborah;
- Pittman, Alan;
- Jaunmuktane, Zane;
- Brandner, Sebastian;
- Xiromerisiou, Georgia;
- Wiethoff, Sarah;
- Schottlaender, Lucia;
- Proukakis, Christos
Publication type:
journal article
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Published in:
Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.788168
By:
- Papapetropoulos, Spyros;
- Pontius, Angela;
- Finger, Elizabeth;
- Karrenbauer, Virginija;
- Lynch, David S.;
- Brennan, Matthew;
- Zappia, Samantha;
- Koehler, Wolfgang;
- Schoels, Ludger;
- Hayer, Stefanie N.;
- Takuya Konno;
- Takeshi Ikeuchi;
- Lund, Troy;
- Orthmann-Murphy, Jennifer;
- Eichler, Florian;
- Wszolek, Zbigniew K.
Publication type:
Article
Novel Kidins220/ARMS Splice Isoforms: Potential Specific Regulators of Neuronal and Cardiovascular Development.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129944
By:
- Schmieg, Nathalie;
- Thomas, Claire;
- Yabe, Arisa;
- Lynch, David S.;
- Iglesias, Teresa;
- Chakravarty, Probir;
- Schiavo, Giampietro
Publication type:
Article
Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis.
Published in:
PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0015402
By:
- McLaughlin, Russell Lewis;
- Phukan, Julie;
- McCormack, William;
- Lynch, David S.;
- Greenway, Matthew;
- Cronin, Simon;
- Saunders, Jean;
- Slowik, Agnieska;
- Tomik, Barbara;
- Andersen, Peter M.;
- Bradley, Daniel G.;
- Jakeman, Phil;
- Hardiman, Orla
Publication type:
Article
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Published in:
JAMA Neurology, 2016, v. 73, n. 12, p. 1433, doi. 10.1001/jamaneurol.2016.2229
By:
- Lynch, David S.;
- Wei Jia Zhang;
- Lakshmanan, Rahul;
- Kinsella, Justin A.;
- Uzun, Güneş Altıokka;
- Karbay, Merih;
- Tüfekçioğlu, Zeynep;
- Hanağası, Haşmet;
- Burke, Georgina;
- Foulds, Nicola;
- Hammans, Simon R.;
- Bhattacharjee, Anupam;
- Wilson, Heather;
- Adams, Matthew;
- Walker, Mark;
- Nicoll, James A. R.;
- Chataway, Jeremy;
- Fox, Nick;
- Davagnanam, Indran;
- Phadke, Rahul
Publication type:
Article
<italic>GLS</italic> loss of function causes autosomal recessive spastic ataxia and optic atrophy.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 2, p. 216, doi. 10.1002/acn3.522
By:
- Lynch, David S.;
- Chelban, Viorica;
- Vandrovcova, Jana;
- Pittman, Alan;
- Wood, Nicholas W.;
- Houlden, Henry
Publication type:
Article
GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy.
Published in:
2020
By:
- Yau, Wai Yan;
- Sullivan, Roisin;
- Chen, Zhongbo;
- Lynch, David S.;
- Vandrovcova, Jana;
- Wood, Nicholas W.;
- Houlden, Henry
Publication type:
Letter
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Published in:
Journal of Neurology, 2022, v. 269, n. 12, p. 6673, doi. 10.1007/s00415-022-11302-9
By:
- Budhdeo, Sanjay;
- de Paiva, Anderson Rodrigues Brandão;
- Wade, Charles;
- Lopes, Laura Cardia Gomes;
- Della-Ripa, Bruno;
- Davagnanam, Indran;
- Lucato, Leandro;
- Mummery, Catherine J.;
- Kok, Fernando;
- Houlden, Henry;
- Werring, David J.;
- Lynch, David S.
Publication type:
Article
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1.
Published in:
Movement Disorders, 2022, v. 37, n. 4, p. 879, doi. 10.1002/mds.28956
By:
- Melo, Eduardo Sousa de;
- Paiva, Anderson Rodrigues Brandão de;
- de Amorim Jr, Antônio Duarte;
- Lima de Carvalho Jr, Jose Ronaldo;
- Bezerra, Marcos Eugenio Ramalho;
- van der Linden, Vanessa;
- Lynch, David S.;
- Kok, Fernando
Publication type:
Article
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006232
By:
- Freua, Fernando;
- Espíndola de Castro Almeida, Mariana;
- Ribeiro Nóbrega, Paulo;
- Rodrigues Brandão de Paiva, Anderson;
- Della-Ripa, Bruno;
- Cunha, Paulina;
- Macedo-Souza, Lúcia Inês;
- Bueno, Clarissa;
- Lynch, David S.;
- Houlden, Henry;
- Tavares Lucato, Leandro;
- Kok, Fernando
Publication type:
Article
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
Published in:
American Journal of Case Reports, 2017, v. 18, p. 17, doi. 10.12659/AJCR.900970
By:
- Scalco, Renata Siciliani;
- Lorenzoni, Paulo José;
- Lynch, David S.;
- Martins, William Alves;
- Jungbluth, Heinz;
- Quinlivan, Ros;
- Becker, Jefferson;
- Houlden, Henry
Publication type:
Article
Pembrolizumab for the treatment of progressive multifocal leukoencephalopathy following anti‐CD19 CAR‐T therapy: a case report.
Published in:
EJHaem, 2021, v. 2, n. 4, p. 848, doi. 10.1002/jha2.274
By:
- Mackenzie, Strachan;
- Shafat, Manar;
- Roddy, Harriet;
- Hyare, Harpreet;
- Neill, Lorna;
- Marzolini, Maria A. V.;
- Gilhooley, Michael;
- Marafioti, Teresa;
- Kara, Eleanna;
- Sanchez, Emilie;
- Rees, Jeremy;
- Lynch, David S.;
- Thomson, Kirsty;
- Ardeshna, Kirit M.;
- Laurence, Arian;
- Peggs, Karl S.;
- O'Reilly, Maeve;
- Roddie, Claire
Publication type:
Article

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