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Neurological Research
A Journal of Progress in Neurosurgery, Neurology and Neurosciences
Volume 32, 2010 - Issue 1: Neuromyology II
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Articles

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

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Pages 41-46 | Published online: 19 Jul 2013

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Corrado Angelini, Valentina Pegoraro & Giovanna Cenacchi. (2019) The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy. Expert Opinion on Orphan Drugs 7:5, pages 223-232.
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Corrado Angelini, Laura Giaretta & Roberta Marozzo. (2018) An update on diagnostic options and considerations in limb-girdle dystrophies. Expert Review of Neurotherapeutics 18:9, pages 693-703.
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Corrado Angelini & Marina Fanin. (2017) Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy. Expert Opinion on Orphan Drugs 5:10, pages 769-784.
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Articles from other publishers (40)

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Ikhlass Belhassen, Sirine Laroussi, Salma Sakka, Sabrine Rekik, Laila Lahkim, Mariem Dammak, François Jerome Authier & Chokri Mhiri. (2023) Dysferlinopathy in Tunisia: clinical spectrum, genetic background and prognostic profile. Neuromuscular Disorders 33:10, pages 718-727.
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Maike Tomforde, Meike Steinbach, Tobias B. Haack & Gregor Kuhlenbäumer. (2023) Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene. neurogenetics.
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Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier & Jordi Diaz‐Manera. (2022) Water T2 could predict functional decline in patients with dysferlinopathy. Journal of Cachexia, Sarcopenia and Muscle.
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L.G. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, L.Yu. Silaeva, L.I. Tkachuk, O.V. Beregela & M.V. Filozop. (2022) Автосомно-рецесивна кінцівково-поясна м’язова дистрофія типу 2А: огляд літератури та клінічні спостереження. INTERNATIONAL NEUROLOGICAL JOURNAL 18:2, pages 15-20.
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Ivana F. Audhya, Antoinette Cheung, Shelagh M. Szabo, Emma Flint, Conrad C. Weihl & Katherine L. Gooch. (2022) Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review. Journal of Neuromuscular Diseases 9:4, pages 477-492.
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Roberta Costa, Maria Teresa Rodia, Serafina Pacilio, Corrado Angelini & Giovanna Cenacchi. (2022) LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism. Frontiers in Neurology 13.
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Valakunja H. Ganaraja, Kiran Polavarapu, Mainak Bardhan, Veeramani Preethish-Kumar, Shingavi Leena, Ram M. Anjanappa, Seena Vengalil, Saraswati Nashi, Gautham Arunachal, Swetha Gunasekaran, Dhaarini Mohan, Sanita Raju, Gopikrishnan Unnikrishnan, Akshata Huddar, Valasani Ravi-Kiran, Priya T. Thomas & Atchayaram Nalini. (2021) Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India. Global Medical Genetics 09:01, pages 034-041.
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Orly Moshe-Lilie, Daniela Ghetie, George Banks, Barry G. Hansford & Nizar Chahin. (2022) Unusual cases of Anti-SRP necrotizing myopathy with predominant distal leg weakness and atrophy. Neuromuscular Disorders 32:2, pages 170-175.
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Joanna May S Quilacio, Raymond L Rosales & Encarnita R Ampil. (2022) Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos. Cureus.
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Fangzhi Frank Jia, Alexander P. Drew, Garth Alexander Nicholson, Alastair Corbett & Kishore Raj Kumar. (2021) Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings. Neuromuscular Disorders 31:11, pages 1101-1112.
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Dimitra G. Georganopoulou, Vasilis G. Moisiadis, Firhan A. Malik, Ali Mohajer, Tanya M. Dashevsky, Shirley T. Wuu & Chih-Kao Hu. (2021) A Journey with LGMD: From Protein Abnormalities to Patient Impact. The Protein Journal 40:4, pages 466-488.
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Antonella LoMauro, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Cristina Pistininzi, Eraldo Marchi, Riccardo Pascuzzo, Simone Vantini, Andrea Aliverti & Maria Grazia D'Angelo. (2021) Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study. Neuromuscular Disorders 31:6, pages 489-497.
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Valentina Pegoraro & Corrado Angelini. (2021) Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies. Genes 12:1, pages 85.
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M. Cerino, E. Campana‐Salort, A. Salvi, P. Cintas, D. Renard, R. Juntas Morales, C. Tard, F. Leturcq, T. Stojkovic, N. Bonello‐Palot, S. Gorokhova, J. Mortreux, A. Maues De Paula, N. Lévy, J. Pouget, M. Cossée, M. Bartoli, M. Krahn & S. Attarian. (2020) Novel CAPN3 variant associated with an autosomal dominant calpainopathy . Neuropathology and Applied Neurobiology 46:6, pages 564-578.
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Ю.Н. Рушкевич, Е.В. Мальгина, С.Л. Куликова, С.А. Лихачев & А.Р. Мирзоян. (2020) Limb-Girdle Muscular Dystrophy Type 2A (Leiden- Möbius Phenotype) with Compound Heterozygous Mutationin 4 Exon of CAPN3 Gene: Own Observation. Неврология и нейрохирургия. Восточная Европа:2, pages 286-295.
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Yvan Torrente, Pamela Bella, Luana Tripodi, Chiara Villa & Andrea Farini. (2020) Role of Insulin-Like Growth Factor Receptor 2 across Muscle Homeostasis: Implications for Treating Muscular Dystrophy. Cells 9:2, pages 441.
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Sridhar Selvaraj, Neha R. Dhoke, James Kiley, Alba Judith Mateos-Aierdi, Sudheer Tungtur, Ricardo Mondragon-Gonzalez, Grace Killeen, Vanessa K.P. Oliveira, Adolfo López de Munain & Rita C.R. Perlingeiro. (2019) Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy. Molecular Therapy 27:12, pages 2147-2157.
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Sabrine Rekik, Salma Sakka, Sawssan Ben Romdhan, Nouha Farhat, Yasmine Baba Amer, Leila Lehkim, François Jérôme Authier & Chokri Mhiri. (2019) Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy. Journal of Molecular Neuroscience 69:4, pages 563-569.
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Clementina Sitzia, Mirella Meregalli, Marzia Belicchi, Andrea Farini, Maddalena Arosio, Denise Bestetti, Chiara Villa, Luca Valenti, Paolo Brambilla & Yvan Torrente. (2019) Preliminary Evidences of Safety and Efficacy of Flavonoids- and Omega 3-Based Compound for Muscular Dystrophies Treatment: A Randomized Double-Blind Placebo Controlled Pilot Clinical Trial. Frontiers in Neurology 10.
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John Vissing & Morten Duno. (2017) Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?. Brain 140:2, pages e8-e8.
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Amets Sáenz & Adolfo López de Munain. (2017) Dominant LGMD2A: alternative diagnosis or hidden digenism?. Brain 140:2, pages e7-e7.
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Marina Fanin & Corrado Angelini. (2016) Progress and challenges in diagnosis of dysferlinopathy. Muscle & Nerve 54:5, pages 821-835.
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XUEYAN WANG, YUN YANG & RONG ZHOU. (2016) Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report. Experimental and Therapeutic Medicine 12:1, pages 41-44.
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Farzad Fatehi, Shahriar Nafissi, J. Andoni Urtizberea, Véronique Blanck-Labelle, Nicolas Lévy, Martin Krahn, Mohamad Baker Dbouk & Shahram Attarian. (2015) Dysferlinopathy in Iran: Clinical and genetic report. Journal of the Neurological Sciences 359:1-2, pages 256-259.
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Małgorzata DorobekBarbara RyniewiczDagmara KabzińskaAnna FidziańskaMaria StyczyńskaIrena Hausmanowa-Petrusewicz. (2015) The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population . Genetic Testing and Molecular Biomarkers 19:11, pages 637-640.
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Marina Fanin & Corrado Angelini. (2015) Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. Muscle & Nerve 52:2, pages 163-173.
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Jincy Winston, Laura Duerden, Matthew Mort, Ian M Frayling, Mark T Rogers & Meena Upadhyaya. (2014) Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. European Journal of Human Genetics 23:1, pages 67-71.
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Simon Hauerslev, Marie-Louise Sveen, Morten Duno, Corrado Angelini, John Vissing & Thomas O Krag. (2012) Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies. BMC Musculoskeletal Disorders 13:1.
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