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1. Full Text Treatment of myotonia congenita with retigabine in mice
by Dupont, Chris and Denman, Kirsten S and Hawash, Ahmed A and Voss, Andrew A and Rich, Mark M
Experimental neurology, ISSN 0014-4886, 05/2019, Volume 315, pp. 52 - 59
Sodium channel | Retigabine | Myotonia | Persistent inward current | Excitability | Action potential | Muscle | Potassium channel | Kv7 | Muscle contraction | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Membrane Potentials - drug effects | Myotonia Congenita - psychology | Phenylenediamines - therapeutic use | Psychomotor Performance - drug effects | Chloride Channels - genetics | Chloride Channels - metabolism | KCNQ Potassium Channels - drug effects | Animals | Myotonia Congenita - drug therapy | Muscle Contraction - drug effects | Muscle, Skeletal - drug effects | Membrane Transport Modulators - therapeutic use | Behavior, Animal - drug effects | Mice | Carbamates - therapeutic use | In Vitro Techniques | Action Potentials - drug effects | Anticonvulsants | Potassium channels | Epilepsy | Cells | Index Medicus | muscle contraction | excitability | retigabine | sodium channel | muscle | potassium channel | myotonia | persistent inward current | action potential
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2. Full Text ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation
by Imbrici, P and Maggi, L and Mangiatordi, G. F and Dinardo, M. M and Altamura, C and Brugnoni, R and Alberga, D and Pinter, G. Lauria and Ricci, G and Siciliano, G and Micheli, R and Annicchiarico, G and Lattanzi, G and Nicolotti, O and Morandi, L and Bernasconi, P and Desaphy, J.‐F and Mantegazza, R and Camerino, D. Conte
The Journal of physiology, ISSN 0022-3751, 09/2015, Volume 593, Issue 18, pp. 4181 - 4199
Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Genetic Association Studies - methods | Male | Muscle, Skeletal - metabolism | Chloride Channels - genetics | Mutation - genetics | Young Adult | Ion Channel Gating - genetics | Adult | Female | Heterozygote | Aged | Myotonia Congenita - genetics | Child | Muscles | Genetic aspects | Musculoskeletal system | Genotype & phenotype | Mutation | Index Medicus | Twenty-Five Years of Clc Transport Proteins | Special Section
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3. Full Text Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: A paradigm to understand and treat ion channelopathies
by Imbrici, Paola and Altamura, Concetta and Camerino, Giulia Maria and Mangiatordi, Giuseppe Felice and Conte, Elena and Maggi, Lorenzo and Brugnoni, Raffaella and Musaraj, Kejla and Caloiero, Roberta and Alberga, Domenico and Marsano, Reǹe Massimiliano and Ricci, Giulia and Siciliano, Gabriele and Nicolotti, Orazio and Mora, Marina and Bernasconi, Pia and Desaphy, Jean-Francois and Mantegazza, Renato and Camerino, Diana Conte
The FASEB journal, ISSN 0892-6638, 10/2016, Volume 30, Issue 10, pp. 3285 - 3295
Chloride channel | Molecular dynamics | Gene expression | Patch-clamp | Skeletal muscle | Biochemistry & Molecular Biology | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Chloride Channels - metabolism | Ion Channel Gating - physiology | Phenotype | Ion Channel Gating - genetics | Electrophysiological Phenomena - genetics | Humans | Muscle, Skeletal - metabolism | Channelopathies - metabolism | Chloride Channels - genetics | Mutation - genetics | Myotonia Congenita - metabolism | Patch-Clamp Techniques - methods | Index Medicus | Research | molecular dynamics | skeletal muscle | chloride channel | patch-clamp | gene expression
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4. Full Text N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita
by Ke, Qing and Ye, Jia and Tang, Siyang and Wang, Jin and Luo, Benyan and Ji, Fang and Zhang, Xu and Yu, Ye and Cheng, Xiaoyang and Li, Yuezhou
The Journal of physiology, ISSN 0022-3751, 11/2017, Volume 595, Issue 22, pp. 6837 - 6850
paramyotonia congenita | myotonia | ion channel | skeletal muscle disorders | voltage‐gated sodium channel | channelopathies | voltage-gated sodium channel | Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cold Temperature | Myotonic Disorders - genetics | NAV1.4 Voltage-Gated Sodium Channel - genetics | Humans | Middle Aged | Male | NAV1.4 Voltage-Gated Sodium Channel - metabolism | Myotonic Disorders - pathology | Molecular Dynamics Simulation | Myotonic Disorders - metabolism | HEK293 Cells | Adult | Female | Aged | Gain of Function Mutation | Ion Channel Gating | Molecular dynamics | Muscles | Genetic aspects | Paralysis | Hydrogen | Analysis | Channelopathy | Pathogenesis | Serine | Homology | Depolarization | Missense mutation | Arginine | Hydrogen bonds | Temperature effects | Sodium channels (voltage-gated) | Modelling | Sodium channels | Deactivation | Cold | Computer simulation | Channel gating | Myotonia | Functional analysis | Patients | Skeletal muscle | Musculoskeletal system | Sodium | Mutation | Index Medicus | Molecular and Cellular | Research Paper
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5. Full Text Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes
by Desaphy, Jean-François and Gramegna, Gianluca and Altamura, Concetta and Dinardo, Maria Maddalena and Imbrici, Paola and George, Alfred L and Modoni, Anna and LoMonaco, Mauro and Conte Camerino, Diana
Experimental neurology, ISSN 0014-4886, 10/2013, Volume 248, pp. 530 - 540
ClC-1 chloride channel | Non-dystrophic myotonia | Acetazolamide | Genotype–phenotype relationship | Patch-clamp | Myotonia congenita | Transitory weakness | Chloride channel mutation | Genotype-phenotype relationship | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Action Potentials - physiology | Chloride Channels - metabolism | Phenotype | Humans | Muscle, Skeletal - physiopathology | HEK293 Cells | Muscle, Skeletal - metabolism | Myotonia Congenita - physiopathology | Chloride Channels - genetics | Mutation | Myotonia Congenita - genetics | Myotonia Congenita - metabolism | Depression, Mental | Genetic aspects | Index Medicus
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6. Full Text Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients
by Palma Milla, Carmen and Prior De Castro, Carmen and Gómez-González, Clara and Martínez-Montero, Paloma and I. Pascual Pascual, Samuel and Molano Mateos, Jesús
Journal of genetics, ISSN 0022-1333, 9/2019, Volume 98, Issue 3, pp. 1 - 10
Life Sciences | paramyotonia congenita | Life Sciences, general | Plant Genetics and Genomics | founder effect | Microbial Genetics and Genomics | CLCN1 gene | myotonia congenita | Evolutionary Biology | Animal Genetics and Genomics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | NAV1.4 Voltage-Gated Sodium Channel - genetics | Exons | Humans | Male | Muscle, Skeletal - metabolism | Chloride Channels - genetics | Spain | Founder Effect | Female | Polymorphism, Single Nucleotide | Mutation | Myotonia Congenita - genetics | Myotonia Congenita - diagnosis | Cohort Studies | Genetic research | Muscles | Genetic aspects | Analysis | Genetic screening | Sodium channels | Statistical analysis | Myotonia | Founder effect | EMG | Skeletal muscle | Index Medicus
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7. Full Text Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
by Schartner, Vanessa and Schartner, Vanessa and Romero, Norma B and Romero, Norma B and Donkervoort, Sandra and Donkervoort, Sandra and Treves, Susan and Treves, Susan and Munot, Pinki and Munot, Pinki and Pierson, Tyler Mark and Pierson, Tyler Mark and Dabaj, Ivana and Dabaj, Ivana and Malfatti, Edoardo and Malfatti, Edoardo and Zaharieva, Irina T and Zaharieva, Irina T and Zorzato, Francesco and Zorzato, Francesco and Abath Neto, Osorio and Abath Neto, Osorio and Brochier, Guy and Brochier, Guy and Lornage, Xavière and Lornage, Xavière and Eymard, Bruno and Eymard, Bruno and Taratuto, Ana Lía and Taratuto, Ana Lía and Böhm, Johann and Böhm, Johann and Gonorazky, Hernan and Gonorazky, Hernan and Ramos-Platt, Leigh and Ramos-Platt, Leigh and Feng, Lucy and Feng, Lucy and Phadke, Rahul and Phadke, Rahul and Bharucha-Goebel, Diana X and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Sumner, Charlotte Jane and Bui, Mai Thao and Bui, Mai Thao and Lacene, Emmanuelle and Lacene, Emmanuelle and Beuvin, Maud and Beuvin, Maud and Labasse, Clémence and Labasse, Clémence and Dondaine, Nicolas and Dondaine, Nicolas and Schneider, Raphael and Schneider, Raphael and Thompson, Julie and Thompson, Julie and Boland, Anne and Boland, Anne and Deleuze, Jean-François and Deleuze, Jean-François and Matthews, Emma and Matthews, Emma and Pakleza, Aleksandra Nadaj and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Sewry, Caroline A and Biancalana, Valérie and Biancalana, Valérie and Quijano-Roy, Susana and Quijano-Roy, Susana and Muntoni, Francesco and Muntoni, Francesco and Fardeau, Michel and Fardeau, Michel and Bönnemann, Carsten G and Bönnemann, Carsten G and Laporte, Jocelyn and Laporte, Jocelyn
Acta neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Pathology | Neurosciences | Medicine & Public Health | Excitation–contraction coupling | DHPR | Core myopathy | Congenital myopathy | Myotubular myopathy | Centronuclear myopathy | Triad | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Calcium Channels - metabolism | Calcium - metabolism | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Myotonia Congenita - metabolism | Young Adult | Adult | Female | Myotonia Congenita - genetics | Calcium Channels - genetics | Child | Muscle Cells - pathology | Cells, Cultured | Muscle Cells - metabolism | Myotonia Congenita - pathology | Sequence Homology, Amino Acid | Phenotype | Muscle, Skeletal - diagnostic imaging | Adolescent | Myotonia Congenita - diagnostic imaging | Family | Muscle, Skeletal - pathology | Mutation | Cohort Studies | Muscles | Genetic disorders | Index Medicus
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8. Full Text Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
by Portaro, Simona and Altamura, Concetta and Licata, Norma and Camerino, Giulia M and Imbrici, Paola and Musumeci, Olimpia and Rodolico, Carmelo and Conte Camerino, Diana and Toscano, Antonio and Desaphy, Jean-François
Neuromolecular medicine, ISSN 1535-1084, 9/2015, Volume 17, Issue 3, pp. 285 - 296
Neurology | RT-PCR analysis | Neurosciences | Biomedicine | CLCN1 gene | Internal Medicine | Molecular analysis | TSA cells | Myotonia congenita | Functional characterization | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Male | Structure-Activity Relationship | Chloride Channels - genetics | Recombinant Fusion Proteins - metabolism | Young Adult | Chlorides - metabolism | Conserved Sequence | Adult | Female | Myotonia Congenita - genetics | Real-Time Polymerase Chain Reaction | Cell Line | Chloride Channels - chemistry | Genetic Association Studies | Exons - genetics | Genes, Recessive | Sequence Analysis, DNA | Sequence Homology, Amino Acid | Point Mutation | Patch-Clamp Techniques | Sequence Alignment | Consanguinity | Muscle, Skeletal - pathology | Ion Channel Gating | Chloride Channels - physiology | Genetic research | Muscles | Genetic aspects | Gene expression | Index Medicus | Original Paper
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9. Full Text Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy
by Horstick, Eric J and Horstick, Eric J and Linsley, Jeremy W and Linsley, Jeremy W and Dowling, James J and Dowling, James J and Hauser, Michael A and Hauser, Michael A and McDonald, Kristin K and McDonald, Kristin K and Ashley-Koch, Allison and Ashley-Koch, Allison and Saint-Amant, Louis and Saint-Amant, Louis and Satish, Akhila and Satish, Akhila and Cui, Wilson W and Cui, Wilson W and Zhou, Weibin and Zhou, Weibin and Sprague, Shawn M and Sprague, Shawn M and Stamm, Demetra S and Stamm, Demetra S and Powell, Cynthia M and Powell, Cynthia M and Speer, Marcy C and Speer, Marcy C and Franzini-Armstrong, Clara and Franzini-Armstrong, Clara and Hirata, Hiromi and Hirata, Hiromi and Kuwada, John Y and Kuwada, John Y
Nature communications, ISSN 2041-1723, 2013, Volume 4, Issue 1, pp. 1952 - 1952
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Adaptor Proteins, Signal Transducing - chemistry | Central Nervous System - metabolism | Excitation Contraction Coupling | Malignant Hyperthermia - physiopathology | Humans | Embryo, Nonmammalian - metabolism | Central Nervous System - pathology | Molecular Sequence Data | Ryanodine Receptor Calcium Release Channel - metabolism | Cleft Palate - genetics | Myotonia Congenita - physiopathology | RNA, Messenger - metabolism | Touch | Zebrafish - embryology | Mutation, Missense - genetics | Malignant Hyperthermia - genetics | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Myofibrils - ultrastructure | Base Sequence | Swimming | Myotonia Congenita - genetics | Amino Acid Sequence | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Cleft Palate - physiopathology | Myotonia Congenita - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Zebrafish - genetics | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Adaptor Proteins, Signal Transducing - genetics | Alleles | Myofibrils - metabolism | Zebrafish Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism | Index Medicus
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