Relevant bibliographies by topics / Titinopathy

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  1. Journal articles
  2. Conference papers

Academic literature on the topic 'Titinopathy'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Titinopathy"

1

De Cid, Rafael, Rabah Ben Yaou, Carinne Roudaut, et al. "A new titinopathy." Neurology 85, no. 24 (2015): 2126–35. http://dx.doi.org/10.1212/wnl.0000000000002200.

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2

Morais, Joana, Ana Andrade Oliveira, Olga Pires, Inês Burmester, Maria João Regadas, and Paulo Gouveia. "Titinopathy, an atypical respiratory failure." BMJ Case Reports 13, no. 9 (2020): e235378. http://dx.doi.org/10.1136/bcr-2020-235378.

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Hereditary myopathy with early respiratory failure is a neuromuscular disease with an autosomal dominant inheritance pattern. Clinical presentation is characterised by proximal and distal muscle weakness, exertional dyspnoea and generalised fatigue. There is no disease-modifying therapy and the prognosis is unknown. Herein we present a case of a 40-year-old woman with long-standing asthenia and apathy and, more recently, daytime sleepiness, dyspnoea and difficulty in walking. A hypercapnic respiratory failure with severe acidemia was identified. The muscle biopsy showed the presence of cytopla
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3

Oates, Emily C., Kristi J. Jones, Sandra Donkervoort, et al. "Congenital Titinopathy: Comprehensive characterization and pathogenic insights." Annals of Neurology 83, no. 6 (2018): 1105–24. http://dx.doi.org/10.1002/ana.25241.

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4

Martinez-Thompson, Jennifer M., Thomas L. Winder, and Teerin Liewluck. "Centronuclear myopathy with cardiomyopathy due to recessive titinopathy." Muscle & Nerve 59, no. 4 (2019): E26—E27. http://dx.doi.org/10.1002/mus.26429.

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5

Oates, E. C., K. S. Yau, K. Jones, et al. "Clinical characterisation of a large international congenital titinopathy cohort." Neuromuscular Disorders 27 (March 2017): S37. http://dx.doi.org/10.1016/s0960-8966(17)30328-0.

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6

Perrin, Aurélien, Raul Juntas Morales, Françoise Chapon, et al. "Novel dominant distal titinopathy phenotype associated with copy number variation." Annals of Clinical and Translational Neurology 8, no. 9 (2021): 1906–12. http://dx.doi.org/10.1002/acn3.51434.

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7

Li, Qiuxiang, Liqun Xu, Huiqian Duan, Huan Yang, and Yue-Bei Luo. "Common and Key Differential Pathogenic Pathways in Desminopathy and Titinopathy." International Journal of Medical Sciences 21, no. 11 (2024): 2040–51. http://dx.doi.org/10.7150/ijms.97797.

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8

Palmio, J., S. Leonard, S. Sacconi, et al. "Expanding importance of HMERF titinopathy: new mutations and clinical aspects." Neuromuscular Disorders 27 (October 2017): S237. http://dx.doi.org/10.1016/j.nmd.2017.06.510.

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9

Pfeffer, Gerald, Jeffrey T. Joseph, A. Micheil Innes, et al. "Titinopathy in a Canadian Family Sharing the British Founder Haplotype." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 1 (2014): 90–94. http://dx.doi.org/10.1017/s0317167100016346.

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10

Yu, Meng, Ying Zhu, Zhiying Xie, et al. "Novel TTN mutations and muscle imaging characteristics in congenital titinopathy." Annals of Clinical and Translational Neurology 6, no. 7 (2019): 1311–18. http://dx.doi.org/10.1002/acn3.50831.

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Conference papers on the topic "Titinopathy"

1

Bass, Hannah, Charles Foster, Akshaya Santhanaraj, and Shourya Kumar. "HAND MOVEMENT GLOVE FOR CHILD WITH TITINOPATHY." In 2023 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2023. http://dx.doi.org/10.1115/dmd2023-9287.

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Abstract Patients with titinopathy or hand paralysis often lack quality, low cost therapeutic tools to aid in gaining hand strength and range of motion. As a result, our team sought to develop a way to increase flexion and passive motion in the hand of a patient with titinopathy in order to gain functionality. This paper outlines the design and development of a novel therapeutic glove for a 4 year old boy with a neuromuscular disease that prevents him from flexing the two distal joints of his fingers. The team has developed a low-cost hand movement glove (HMG) to be used as a supplement to tra
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2

Fonseca, Alulin Tácio Quadros Santos Monteiro, Clara Gontijo Camelo, André Macedo Serafim da Silva, Cristiane Araújo Martins Moreno, and Edmar Zanoteli. "Genetic and clinical features of congenital titinopathy: a singlecenter cohort." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.425.

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Introduction: TTN has the longest coding sequence of human genes and encodes titin, a huge protein that serves as the scaffold for sarcomere assembly. Titinopathy encompasses a complex spectrum of phenotypes with involvement of skeletal and cardiac muscles, with recessive and dominant autosomal inheritance. Objectives: In this work we present the clinical and genetic data of seven patients with autosomal recessive TTN-related congenital myopathy, aged between 9 months and 38 years (mean age 14.73 years). Methods: Clinical, muscle histology and genetic data are presented. TTN gene were analyzed
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Journal articles
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