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1. Full Text Congenital myopathies: an update
by Claeys, Kristl G
Developmental medicine and child neurology, ISSN 0012-1622, 03/2020, Volume 62, Issue 3, pp. 297 - 302
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Muscle, Skeletal - diagnostic imaging | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | High-Throughput Nucleotide Sequencing | Muscle, Skeletal - pathology | Mutation | Myopathies, Structural, Congenital - diagnostic imaging | Index Medicus
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2. Full Text Malignant hyperthermia: still an issue for neuromuscular diseases?
by De Wel, Bram and Claeys, Kristl G
Current opinion in neurology, ISSN 1350-7540, 10/2018, Volume 31, Issue 5, pp. 628 - 634
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Prevention | Complications and side effects | Neuromuscular diseases | Care and treatment | Malignant hyperthermia | Genetic aspects | Risk factors | Index Medicus
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3. Full Text Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
by Altmann, Judith and Büchner, Boriana and Nadaj-Pakleza, Aleksandra and Schäfer, Jochen and Jackson, Sandra and Lehmann, Diana and Deschauer, Marcus and Kopajtich, Robert and Lautenschläger, Ronald and Kuhn, Klaus A and Karle, Kathrin and Schöls, Ludger and Schulz, Jörg B and Weis, Joachim and Prokisch, Holger and Kornblum, Cornelia and Claeys, Kristl G and Klopstock, Thomas
Journal of neurology, ISSN 0340-5354, 5/2016, Volume 263, Issue 5, pp. 961 - 972
Neurology | Neurosciences | Medicine & Public Health | Myoclonus | Epilepsy | Ataxia | Hearing impairment | Neuroradiology | Ragged-red fibres | Psychiatric | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | MERRF Syndrome - epidemiology | Brain - diagnostic imaging | Humans | Middle Aged | MERRF Syndrome - physiopathology | Male | RNA, Transfer, Lys - genetics | Germany - epidemiology | RNA - genetics | Phenotype | MERRF Syndrome - drug therapy | MERRF Syndrome - genetics | Pedigree | Adolescent | Age of Onset | Adult | Female | Registries | Aged | Mutation | Cohort Studies | Complications and side effects | Care and treatment | Gene mutations | Analysis | Genetic aspects | Research | Risk factors | Hearing loss | Index Medicus
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4. Full Text Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis
by De Schaepdryver, Maxim and Jeromin, Andreas and Gille, Benjamin and Claeys, Kristl G and Herbst, Victor and Brix, Britta and Van Damme, Philip and Poesen, Koen
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 04/2018, Volume 89, Issue 4, pp. 367 - 373
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Amyotrophic Lateral Sclerosis - physiopathology | Humans | Middle Aged | Amyotrophic Lateral Sclerosis - diagnosis | Male | Intermediate Filaments - metabolism | Phosphoproteins - cerebrospinal fluid | Case-Control Studies | Neurofilament Proteins - cerebrospinal fluid | Young Adult | Amyotrophic Lateral Sclerosis - cerebrospinal fluid | Adolescent | Aged, 80 and over | Adult | Female | Aged | Electromyography | Neurofilament Proteins - metabolism | Child | Anticoagulants | Neuromuscular diseases | Multiple sclerosis | Guillain-Barre syndrome | Motor neurone disease | Rodents | Phlebotomy | Biomarkers | Amyotrophic lateral sclerosis | Alzheimers disease | Index Medicus
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5. Full Text Comprehensive analysis of the mutation spectrum in 301 German ALS families
by Müller, Kathrin and Brenner, David and Weydt, Patrick and Meyer, Thomas and Grehl, Torsten and Petri, Susanne and Grosskreutz, Julian and Schuster, Joachim and Volk, Alexander E and Borck, Guntram and Kubisch, Christian and Klopstock, Thomas and Zeller, Daniel and Jablonka, Sibylle and Sendtner, Michael and Klebe, Stephan and Knehr, Antje and Günther, Kornelia and Weis, Joachim and Claeys, Kristl G and Schrank, Berthold and Sperfeld, Anne-Dorte and Hübers, Annemarie and Otto, Markus and Dorst, Johannes and Meitinger, Thomas and Strom, Tim M and Andersen, Peter M and Ludolph, Albert C and German ALS Network MND-NET and German ALS network MND-NET
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2018, Volume 89, Issue 8, pp. 817 - 827
amyotrophic lateral sclerosis | whole exome sequencing | genetics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Proteins | Brain research | Genes | Amyotrophic lateral sclerosis | Genomes | Mutation | Patients | Deoxyribonucleic acid--DNA | Dementia | Index Medicus
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6. Full Text Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
by Bryen, Samantha J and Ewans, Lisa J and Pinner, Jason and MacLennan, Suzanna C and Donkervoort, Sandra and Castro, Diana and Töpf, Ana and O'Grady, Gina and Cummings, Beryl and Chao, Katherine R and Weisburd, Ben and Francioli, Laurent and Faiz, Fathimath and Bournazos, Adam M and Hu, Ying and Grosmann, Carla and Malicki, Denise M and Doyle, Helen and Witting, Nanna and Vissing, John and Claeys, Kristl G and Urankar, Kathryn and Beleza‐Meireles, Ana and Baptista, Julia and Ellard, Sian and Savarese, Marco and Johari, Mridul and Vihola, Anna and Udd, Bjarne and Majumdar, Anirban and Straub, Volker and Bönnemann, Carsten G and MacArthur, Daniel G and Davis, Mark R and Cooper, Sandra T
Human mutation, ISSN 1059-7794, 02/2020, Volume 41, Issue 2, pp. 403 - 411
arthrogryposis | congenital titinopathies | intronic splice variant | alternative splicing | TTN metatranscript‐only | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic disorders | Pathogenicity | Alternative splicing | Splicing | Exons | Fetuses | Isoforms | Arthrogryposis | Ribonucleic acid--RNA | Skeletal muscle | Myopathy | Index Medicus | TTN metatranscript-only
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7. Full Text The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
by Bevilacqua, Jorge A and Guecaimburu Ehuletche, Maria del Rosario and Perna, Abayuba and Dubrovsky, Alberto and Franca, Marcondes C and Vargas, Steven and Hegde, Madhuri and Claeys, Kristl G and Straub, Volker and Daba, Nadia and Faria, Roberta and Periquet, Magali and Sparks, Susan and Thibault, Nathan and Araujo, Roberto
Orphanet journal of rare diseases, ISSN 1750-1172, 01/2020, Volume 15, Issue 1, pp. 11 - 11
Pompe disease | Limb-girdle muscle weakness | Next-generation sequencing | Latin America | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Humans | Middle Aged | Male | Mutation - genetics | Glycogen Storage Disease Type II - pathology | Sequence Analysis, DNA | Young Adult | Muscular Dystrophies, Limb-Girdle - metabolism | Adolescent | Muscle Weakness - metabolism | Muscle Weakness - pathology | Brazil | Glycogen Storage Disease Type II - metabolism | Adult | Female | Mexico | High-Throughput Nucleotide Sequencing - methods | Muscular Dystrophies, Limb-Girdle - pathology | Medicine, Experimental | Medical research | Glycogen | Enzymes | Disease | Laboratories | Cardiomyopathy | Genomics | Genes | Clinical trials | Identification | Medical screening | Patients | Muscular dystrophy | Proteins | Genetic variance | Etiology | Software | Differential diagnosis | Neuromuscular system | Index Medicus
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8. Full Text Detection of myositis-specific antibodies
by Vulsteke, Jean-Baptiste and De Langhe, Ellen and Claeys, Kristl G and Dillaerts, Doreen and Poesen, Koen and Lenaerts, Jan and Westhovens, René and Van Damme, Philip and Blockmans, Daniel and De Haes, Petra and Bossuyt, Xavier
Annals of the rheumatic diseases, ISSN 0003-4967, 01/2019, Volume 78, Issue 1, pp. e7 - e7
polymyositis | autoantibodies | dermatomyositis | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Phenotypes | Immunoglobulins | Autoantibodies | Ribonucleoproteins (small nuclear) | Laboratories | Lung diseases | Dermatomyositis | Inflammation | Arthritis | Malignancy | Ribonucleoproteins (U2 small nuclear) | Blood donors | Systemic lupus erythematosus | Demyelination | Calcinosis | Rheumatoid arthritis | Systemic sclerosis | Fibrillarin | Classification | Rheumatism | Myositis | Skin diseases | Cell size | Index Medicus
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9. Full Text Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
by Johnson, Katherine and Töpf, Ana and Bertoli, Marta and Phillips, Lauren and Claeys, Kristl G and Stojanovic, Vidosava Rakocevic and Perić, Stojan and Hahn, Andreas and Maddison, Paul and Akay, Ela and Bastian, Alexandra E and Łusakowska, Anna and Kostera-Pruszczyk, Anna and Lek, Monkol and Xu, Liwen and MacArthur, Daniel G and Straub, Volker
Orphanet journal of rare diseases, ISSN 1750-1172, 11/2017, Volume 12, Issue 1, pp. 173 - 173
Pompe disease | Whole exome sequencing | Sequence variants | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Muscular Dystrophies, Limb-Girdle - diagnosis | Glycogen Storage Disease Type II - genetics | Muscle Weakness - diagnosis | Humans | Middle Aged | Child, Preschool | Muscle Weakness - epidemiology | Male | Muscle Weakness - genetics | Whole Exome Sequencing - methods | Young Adult | alpha-Glucosidases - genetics | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophies, Limb-Girdle - epidemiology | Adolescent | Aged, 80 and over | Adult | Female | Aged | Genetic Variation - genetics | Glycogen Storage Disease Type II - epidemiology | Glycogen Storage Disease Type II - diagnosis | Child | Cohort Studies | Care and treatment | Glycogenosis | Genetic variation | Development and progression | Genetic aspects | Health aspects | Genetic screening | Methods | Neurology | Genotype & phenotype | Enzymes | Neuromuscular diseases | Disease | Genomes | Identification | Genetic testing | Mutation | Kinases | Patients | Deoxyribonucleic acid--DNA | Index Medicus
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10. Full Text Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
by Jonghe, Peter De and Noureddine, Maher and Claeys, Kristl and Vance, Jeffery M and Verhoeven, Kristien and Walizada, Gina and Timmerman, Vincent and Merory, John and Kennerson, Marina and Züchner, Stephan and Zhu, Danqing and Pericak-Vance, Margaret A and Nicholson, Garth and Stenger, Judith E and Speer, Marcy C and Oliveira, Sofia A
Nature genetics, ISSN 1061-4036, 03/2005, Volume 37, Issue 3, pp. 289 - 294
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Cell Line | Dynamin II - chemistry | Humans | Dynamin II - genetics | Molecular Sequence Data | Blood Proteins - chemistry | Phosphoproteins - genetics | Blotting, Western | Phosphoproteins - chemistry | Charcot-Marie-Tooth Disease - genetics | Animals | Genes, Dominant | Blood Proteins - genetics | Cloning, Molecular | Mutation | DNA, Complementary | Gene mutations | Charcot-Marie-Tooth disease | Causes of | Physiological aspects | Genetic aspects | Research | Health aspects | Index Medicus
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