Journal: Rare diseases - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Journal Rare diseases

1. A commentary on the utility of a new L-DOPA-responsive dystonia mouse model. Issue 1 (1st January 2016)

Authors:: Rose, Samuel J.; Hess, Ellen J.
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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2. Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies. Issue 1 (1st January 2016)

Authors:: Marchi, Saverio; Trapani, Eliana; Corricelli, Mariangela; Goitre, Luca; Pinton, Paolo; Retta, Saverio Francesco
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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3. Canine models of human rare disorders. Issue 1 (1st January 2016)

Authors:: Hytönen, Marjo K.; Lohi, Hannes
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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4. Dystrophin: The dead calm of a dogma. Issue 1 (1st January 2016)

Authors:: Górecki, Dariusz C.
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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5. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Issue 1 (1st January 2016)

Authors:: Abdelhadi, Ola; Iancu, Daniela; Stanescu, Horia; Kleta, Robert; Bockenhauer, Detlef
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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6. Listen to your gut: Using adhesion to shape the surface of functionally diverse epithelia. Issue 1 (1st January 2016)

Authors:: Tyska, Matthew J.
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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7. Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. Issue 1 (1st January 2016)

Authors:: Kinghorn, Kerri J.; Castillo-Quan, Jorge Iván
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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8. Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. Issue 1 (1st January 2016)

Authors:: Yang, Su; Li, Xiao-Jiang; Li, Shihua
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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9. Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. Issue 1 (1st January 2016)

Authors:: Rannals, Matthew D.; Page, Stephanie Cerceo; Campbell, Morganne N.; Gallo, Ryan A.; Mayfield, Brent; Maher, Brady J.
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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10. Orotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression. Issue 1 (1st January 2016)

Authors:: Hamamoto, Yoichiro; Takeoka, Shinjiro; Mouri, Atsuto; Fukusumi, Munehisa; Wakuda, Kazushige; Ibe, Tatsuya; Honma, Chie; Arimoto, Yoshihito; Yamada, Kazuaki; Wagatsuma, Miyuki; Tashiro, Akito; Kamoshida, Shingo; Kamimura, Mitsuhiro
Journal:: Rare diseases
Issue:: Volume 4:Issue 1(2016)
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Record Type:: Journal Article
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