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European neurology NEFL-related Charcot-Marie Tooth disease due to P440L mutation in two italian families: Expanding the phenotype and defining modulating factors

Petrucci A ; Lispi L ; Garibaldi M ; Frezza E ; Moro F ; Massa R ; Santorelli FM | Switzerland | 21/02/2023

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Neuroepidemiology Incidence, prevalence, hospitalization rates and treatment patterns in myasthenia gravis: A 10-year real-world data analysis of German claims data

Wartmann H ; Hoffmann S ; Ruck T ; Nelke C ; Deiters B ; Volmer T | Switzerland | 20/02/2023

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Cells, 12, 3. Introduction to the Special Issue "Skeletal Muscle Atrophy: Mechanisms at a Cellular Level"

Zuccaro E ; Marchioretti C ; Pirazzini M ; Pennuto M | Switzerland | 03/02/2023

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Biomolecules, 13, 2. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Kleynerman A ; Rybova J ; Faber ML ; McKillop WM ; Levade T ; Medin JA | Switzerland | 02/2023

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Article

Cells, 12, 4. Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1

Bérenger-Currias N ; Martinat C ; Baghdoyan S | Switzerland | 02/2023

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Frontiers in neurology, 14. The role of the gut microbiota and fecal microbiota transplantation in neuroimmune diseases

Wu N ; Li X ; Ma H ; Zhang X ; Liu B ; Wang Y ; Zheng Q ; Fan X | Switzerland | 01/02/2023

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Article

Frontiers in neurology Efficacy of vamorolone in treatment of Duchene muscle dystrophy. A meta-analysis

Elhalag RH ; Motawea KR ; Talat NE ; Rouzan SS ; Shah J | Switzerland | 01/02/2023

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Article

Frontiers in rehabilitation sciences, 4. Organization of rehabilitation services for youth with physical disabilities and mental health problems: A scoping review

Tremblay S ; Lal S ; Xiang L ; Ferro MA ; Anaby D | Switzerland | 02/2023

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Article

Genes, 14, 2. Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity

Prykhozhij SV ; Caceres L ; Ban K ; Cordeiro-Santanach A ; Nagaraju K ; Hoffman EP ; Berman JN | Switzerland | 02/2023

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Article

International Journal of molecular sciences, 24, 4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

Ohno K ; Ohkawara B ; Shen XM ; Selcen D ; Engel AG | Switzerland | 02/2023

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Article

International Journal of molecular sciences, 24, 4. Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model

Neault N ; Ravel-Chapuis A ; Baird SD ; Lunde JA ; Poirier M ; Staykov E ; Plaza-Diaz J ; Medina G ; Abadia-Molina F ; Jasmin BJ ; MacKenzie AE | Switzerland | 02/2023

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Article

International journal of neonatal screening, 9, 1. Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Lefèvre CR ; Labarthe F ; Dufour D ; Moreau C ; Faoucher M ; Rollier P ; Arnoux JB ; Tardieu M ; Damaj L ; Bendavid C ; Dessein AF ; Acquaviva-Bourdain C ; Cheillan D | Switzerland | 02/2023

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Article

International Journal of molecular sciences, 24, 3. Application of Antisense Conjugates for the Treatment of Myotonic Dystrophy Type 1

Stoodley J ; Vallejo-Bedia F ; Seone-Miraz D ; Debasa-Mouce M ; Wood MJA ; Varela MA | Switzerland | 31/01/2023

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Frontiers in immunology, 14. Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells

Verdier J ; Fayet OM ; Hemery E ; Truffault F ; Pinzon N ; Demeret S ; Behin A ; Fadel E ; Guihaire J ; Corneau A ; Blanc C ; Berrih-Aknin S ; Le Panse R | Switzerland | 30/01/2023

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Article

International journal of environmental research and public health, 20, 3. Automatic Text-Mining Approach to Identify Molecular Target Candidates Associated with Metabolic Processes for Myotonic Dystrophy Type 1

Kuntawala DH ; Martins F ; Vitorino R ; Rebelo S | Switzerland | 27/01/2023

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Article

International Journal of molecular sciences, 24, 3. Ion Channels of the Sarcolemma and Intracellular Organelles in Duchenne Muscular Dystrophy: A Role in the Dysregulation of Ion Homeostasis and a Possible Target for Therapy

Dubinin MV ; Belosludtsev KN | Switzerland | 23/01/2023

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Article

International Journal of molecular sciences, 24, 3. Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1)

Rossi S ; Silvestri G | Switzerland | 22/01/2023

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Article

International Journal of molecular sciences, 24, 3. Impact of the TRPV2 Inhibitor on Advanced Heart Failure in Patients with Muscular Dystrophy: Exploratory Study of Biomarkers Related to the Efficacy of Tranilast

Takahashi C ; Oishi M ; Iwata Y ; Maekawa K ; Matsumura T | Switzerland | 21/01/2023

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Article

Frontiers in Genetics, 13. Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Bi S ; Dai L ; Jiang L ; Wang L ; Teng M ; Liu G ; Teng RJ | Switzerland | 13/01/2023

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Article

Journal of clinical medicine, 12, 2. Caregivers of Neuromuscular Patients Living with Tracheostomy during COVID-19 Pandemic: Their Experience

Pierucci P ; Volpato E ; Grosso F ; De Candia ML ; Casparrini M ; Compalati E ; Pagnini F ; Banfi P ; Carpagnano GE | Switzerland | 10/01/2023

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Frontiers in genome editing, 4. Hematopoietic stem and progenitors cells gene editing: Beyond blood disorders

Buffa V ; Alvarez Vargas JR ; Galy A ; Spinozzi S ; Rocca CJ | Switzerland | 09/01/2023

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Article

International archives of allergy and immunology Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

Ertoy Karagol HI ; Inci A ; Terece SP ; Kilic A ; Demir F ; Yapar D ; Koken G ; Okur I ; Ezgu FS ; Tumer L ; Bakirtas A | Switzerland | 09/01/2023

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Article

International Journal of molecular sciences, 24, 2. Nano-Immunomodulation: A New Strategy for Skeletal Muscle Diseases and Aging?

Millozzi F ; Papait A ; Bouche M ; Parolini O ; Palacios D | Switzerland | 07/01/2023

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Article

Frontiers in microbiology, 13. Traditional Chinese medicine improves myasthenia gravis by regulating the symbiotic homeostasis of the intestinal microbiota and host

Zhao M ; Liu L ; Liu F ; Liu L ; Liu Z ; Gao Y ; Cao J | Switzerland | 06/01/2023

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Article

International Journal of molecular sciences, 24, 2. Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives

Lejman J ; Panuciak K ; Nowicka E ; Mastalerczyk A ; Wojciechowska K ; Lejman M | Switzerland | 06/01/2023

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Switzerland

Documents disponibles chez cet éditeur (272)

European neurology NEFL-related Charcot-Marie Tooth disease due to P440L mutation in two italian families: Expanding the phenotype and defining modulating factors

Neuroepidemiology Incidence, prevalence, hospitalization rates and treatment patterns in myasthenia gravis: A 10-year real-world data analysis of German claims data

Cells, 12, 3. Introduction to the Special Issue "Skeletal Muscle Atrophy: Mechanisms at a Cellular Level"

Biomolecules, 13, 2. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Cells, 12, 4. Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1

Frontiers in neurology, 14. The role of the gut microbiota and fecal microbiota transplantation in neuroimmune diseases

Frontiers in neurology Efficacy of vamorolone in treatment of Duchene muscle dystrophy. A meta-analysis

Frontiers in rehabilitation sciences, 4. Organization of rehabilitation services for youth with physical disabilities and mental health problems: A scoping review

Genes, 14, 2. Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity

International Journal of molecular sciences, 24, 4. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

International Journal of molecular sciences, 24, 4. Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model

International journal of neonatal screening, 9, 1. Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

International Journal of molecular sciences, 24, 3. Application of Antisense Conjugates for the Treatment of Myotonic Dystrophy Type 1

Frontiers in immunology, 14. Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells

International journal of environmental research and public health, 20, 3. Automatic Text-Mining Approach to Identify Molecular Target Candidates Associated with Metabolic Processes for Myotonic Dystrophy Type 1

International Journal of molecular sciences, 24, 3. Ion Channels of the Sarcolemma and Intracellular Organelles in Duchenne Muscular Dystrophy: A Role in the Dysregulation of Ion Homeostasis and a Possible Target for Therapy

International Journal of molecular sciences, 24, 3. Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1)

International Journal of molecular sciences, 24, 3. Impact of the TRPV2 Inhibitor on Advanced Heart Failure in Patients with Muscular Dystrophy: Exploratory Study of Biomarkers Related to the Efficacy of Tranilast

Frontiers in Genetics, 13. Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Journal of clinical medicine, 12, 2. Caregivers of Neuromuscular Patients Living with Tracheostomy during COVID-19 Pandemic: Their Experience

Frontiers in genome editing, 4. Hematopoietic stem and progenitors cells gene editing: Beyond blood disorders

International archives of allergy and immunology Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

International Journal of molecular sciences, 24, 2. Nano-Immunomodulation: A New Strategy for Skeletal Muscle Diseases and Aging?

Frontiers in microbiology, 13. Traditional Chinese medicine improves myasthenia gravis by regulating the symbiotic homeostasis of the intestinal microbiota and host

International Journal of molecular sciences, 24, 2. Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives