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Results for

""Protein Tyrosine Phosphatases, Non-Receptor""[mesh_terms]

17 Results

Searching titles within these results

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Jean-Louis Mandel, Alessandra Bolino, Florence Bedez, Jocelyn Laporte

Human molecular genetics 2004;12 Spec No 2():R285-92

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Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Berge A Minassian

Advances in neurology 2002;89():199-210

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Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

Adel M Abuzenadah, Galila F Zaher, Ashraf Dallol, Ghazi A Damanhouri, Adeel G Chaudhary, Faten Al-Sayes, Mamdooh A Gari, Mofareh AlZahrani, Salwa Hindawi, Mohammed H Al-Qahtani

Journal of thrombosis and thrombolysis 2014;36(4):501-6

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Inhibitory leukocyte immunoglobulin-like receptors in cancer development.

FeiFei Zhang, JunKe Zheng, XunLei Kang, Mi Deng, ZhiGang Lu, Jaehyup Kim, ChengCheng Zhang

Science China. Life sciences 2016;58(12):1216-25

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The Myotubularin Related Proteins and the Untapped Interaction Potential of Their Disordered C-Terminal Regions.

Daniel Saar, Birthe B Kragelund, Elke Burgermeister, Caroline L E Lennartsson, Philip Weidner

Proteins 2025;93(4):831-854

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Advances in lafora progressive myoclonus epilepsy.

Antonio V Delgado-Escueta

Current neurology and neuroscience reports 2007;7(5):428-33

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Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

B A Minassian

Pediatric neurology 2001;25(1):21-9

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Checking the STEP-Associated Trafficking and Internalization of Glutamate Receptors for Reduced Cognitive Deficits: A Machine Learning Approach-Based Cheminformatics Study and Its Application for Drug Repurposing.

Salma Jamal, Sukriti Goyal, Asheesh Shanker, Abhinav Grover

PloS one 2016;10(6):e0129370

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Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

B S Cowling, M W Lawlor, U Schara-Schmidt, M Guglieri, J Baets, K Bouman, L Thielemans, D Nijkamp, L Eyler, C Freitag, N C Voermans, J Vissing, F Montagnese, R Quinlivan, S Colombo, A Dhawan

Journal of neuromuscular diseases 2025;12(4):497-512

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Advances in the genetics of progressive myoclonus epilepsy.

S Ganesh, A V Delgado-Escueta, K Yamakawa

American journal of medical genetics 2001;106(2):129-38

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The myotubularin family: novel phosphoinositide regulators.

Richard Huysmans, Harshal H Nandurkar

IUBMB life 2002;53(1):37-43

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Muscle imaging in congenital myopathies.

Susana Quijano-Roy, Robert Y Carlier, Dirk Fischer

Seminars in pediatric neurology 2012;18(4):221-9

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MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Pak C Sham, Massimiliano Gnecchi, Hung-Fat Tse, Peter J Schwartz, Antonio Zaza, Eleonora Torre, Lia Crotti, Timothy S H Mak, Xinru Ran, Matteo Pedrazzini, Marcella Rocchetti, Manuela Mura, Luca Sala, Yee-Ki Lee

Cardiovascular research 2022;117(3):767-779

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Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.

Bryan P Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D Miller, Anne O'Neill, Joseph A Sparano, Gloria Xue, Tatiana Foroud, George W Sledge

Oncotarget 2018;7(50):82244-82253

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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Eva Nelis, Sevim Erdem, Ersin Tan, Ann Löfgren, Chantal Ceuterick, Peter De Jonghe, Christine Van Broeckhoven, Vincent Timmerman, Haluk Topaloglu

Neuromuscular disorders : NMD 2003;12(9):869-73

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Results: 1 – 15 / 17

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Results for ""Protein Tyrosine Phosphatases, Non-Receptor""[mesh_terms]

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

Inhibitory leukocyte immunoglobulin-like receptors in cancer development.

The Myotubularin Related Proteins and the Untapped Interaction Potential of Their Disordered C-Terminal Regions.

Advances in lafora progressive myoclonus epilepsy.

Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Checking the STEP-Associated Trafficking and Internalization of Glutamate Receptors for Reduced Cognitive Deficits: A Machine Learning Approach-Based Cheminformatics Study and Its Application for Drug Repurposing.

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Advances in the genetics of progressive myoclonus epilepsy.

The myotubularin family: novel phosphoinositide regulators.

Muscle imaging in congenital myopathies.

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Charcot-Marie-Tooth gene, SBF2, associated with taxane-induced peripheral neuropathy in African Americans.

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.

Results for

""Protein Tyrosine Phosphatases, Non-Receptor""[mesh_terms]