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1. Full Text The collagen VI-related myopathies: Muscle meets its matrix
by Bönnemann, Carsten G
Nature reviews. Neurology, ISSN 1759-4758, 07/2011, Volume 7, Issue 7, pp. 379 - 390
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Collagen Type VI - genetics | Muscular Diseases - classification | Muscular Diseases - diagnosis | Extracellular Matrix - genetics | Magnetic Resonance Imaging | Diagnosis, Differential | Connective Tissue - pathology | Humans | Muscular Diseases - pathology | Muscular Diseases - genetics | Muscles - pathology | Skin - pathology | Gene mutations | Collagen | Physiological aspects | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
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2. Full Text Pathophysiological concepts in the congenital myopathies: Blurring the boundaries, sharpening the focus
by Ravenscroft, Gianina and Laing, Nigel G and Bönnemann, Carsten G
Brain (London, England : 1878), ISSN 0006-8950, 02/2015, Volume 138, Issue 2, pp. 246 - 268
Atrophy | Mitochondria | Excitation-contraction coupling | Pathophysiology | Membrane remodelling | Force generation | Congenital myopathy | Triad | Autophagy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Animals | Myopathies, Structural, Congenital - physiopathology | Humans | Adult | Myopathies, Structural, Congenital - genetics | Mice | Infant, Newborn | Index Medicus | Abridged Index Medicus | autophagy | mitochondria | triad | pathophysiology | atrophy | Review | membrane remodelling | force generation | excitation-contraction coupling | congenital myopathy
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3. Full Text Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
by Shashi, V and Magiera, M.M and Klein, D and Zaki, M and Schoch, K and Rudnik-Schoneborn, S and Norman, A and Neto, O. Abath and Dusl, M and Yuan, X and Bartesaghi, L and Marco, P. De and Alfares, A.A and Marom, R and Arold, Stefan T and Guzman-Vega, F.J and Pena, L.D and Smith, E.C and Steinlin, M and Babiker, M.O and Mohassel, P and Foley, A.R and Donkervoort, S and Kaur, R and Ghosh, P.S and Stanley, V and Musaev, D and Nava, C and Mignot, C and Keren, B and Scala, M and Tassano, E and Picco, P and Doneda, P and Fiorillo, C and Issa, M.Y and Alassiri, A and Alahmad, A and Gerard, A and Liu, P and Yang, Y and Ertl-Wagner, B and Kranz, P.G and Wentzensen, I.M and Stucka, R and Stong, N and Allen, A.S and Goldstein, D.B and Schoser, B and Rosler, K.M and Alfadhel, M and Capra, V and Chrast, R and Strom, T.M and Kamsteeg, E.J and Bonnemann, C.G and Gleeson, J.G and Martini, R and Janke, C and Senderek, J and Undiagnosed Dis Network and Undiagnosed Diseases Network
The EMBO journal, ISSN 0261-4189, 2018, Volume 37, Issue 23, p. n/a
tubulin polyglutamylation | neurodegeneration | cytosolic carboxypeptidase 1 (CCP1/AGTPBP1/NNA1) | motor neuron | cerebellum | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Peptides - genetics | Male | Cerebellum - enzymology | Motor Neurons - enzymology | Spinocerebellar Degenerations - genetics | Peripheral Nerves - pathology | Serine-Type D-Ala-D-Ala Carboxypeptidase | Motor Neurons - pathology | Carboxypeptidases - deficiency | Cerebellum - pathology | Purkinje Cells - enzymology | Peripheral Nerves - enzymology | Peptides - metabolism | Spine - enzymology | Spinocerebellar Degenerations - enzymology | Spinocerebellar Degenerations - pathology | Female | Protein Processing, Post-Translational | GTP-Binding Proteins | Spine - pathology | Purkinje Cells - pathology | Cerebellum | Motor neurons | Translation | Enzyme activity | Neurodegenerative diseases | Neurons | Peripheral nerves | Motors | Neuropathy | Drug development | Atrophy | Tubulin | Enzymatic activity | Neurodegeneration | Microtubules | Nerves | Mice | Degeneration | Mutation | Index Medicus | Life Sciences | Genetics | Subcellular Processes | Cellular Biology | Neurons and Cognition | Neurobiology | Neuroscience | AGTPBP1 | NNA1 | cytosolic carboxypeptidase 1 (CCP1 | Molecular Biology of Disease | Medicin och hälsovetenskap
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4. Full Text Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
by Tuz, Karina and Bachmann-Gagescu, Ruxandra and O’Day, Diana R and Hua, Kiet and Isabella, Christine R and Phelps, Ian G and Stolarski, Allan E and O’Roak, Brian J and Dempsey, Jennifer C and Lourenco, Charles and Alswaid, Abdulrahman and Bönnemann, Carsten G and Medne, Livija and Nampoothiri, Sheela and Stark, Zornitza and Leventer, Richard J and Topçu, Meral and Cansu, Ali and Jagadeesh, Sujatha and Done, Stephen and Ishak, Gisele E and Glass, Ian A and Shendure, Jay and Neuhauss, Stephan C.F and Haldeman-Englert, Chad R and Doherty, Dan and Ferland, Russell J
American journal of human genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 62 - 72
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microtubule-Associated Proteins - genetics | Exons | Humans | Child, Preschool | Infant | Male | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Gene Knockdown Techniques | Young Adult | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Female | Child | Fibroblasts - metabolism | Cilia - pathology | Abnormalities, Multiple | Eye Abnormalities - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Cilia - genetics | Phenotype | Animals | Cerebellar Diseases - genetics | Adolescent | Retina - abnormalities | Fibroblasts - cytology | Mutation | Dwarfism | Gene mutations | Cilia and ciliary motion | Joubert syndrome | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Genotype & phenotype | Genetics | Genetic disorders | Causality | Index Medicus
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5. Full Text Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
by Baumann, Matthias and Giunta, Cecilia and Krabichler, Birgit and Rüschendorf, Franz and Zoppi, Nicoletta and Colombi, Marina and Bittner, Reginald E and Quijano-Roy, Susana and Muntoni, Francesco and Cirak, Sebahattin and Schreiber, Gudrun and Zou, Yaqun and Hu, Ying and Romero, Norma Beatriz and Carlier, Robert Yves and Amberger, Albert and Deutschmann, Andrea and Straub, Volker and Rohrbach, Marianne and Steinmann, Beat and Rostásy, Kevin and Karall, Daniela and Bönnemann, Carsten G and Zschocke, Johannes and Fauth, Christine
American journal of human genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acids - urine | Frameshift Mutation | Endoplasmic Reticulum - genetics | Humans | Middle Aged | Child, Preschool | Male | Protein Folding | Genetic Variation | Hearing Loss - genetics | Extracellular Matrix - genetics | Homozygote | Ehlers-Danlos Syndrome - genetics | Phenotype | cis-trans-Isomerases - genetics | Adolescent | Ehlers-Danlos Syndrome - urine | Female | Heterozygote | Peptidylprolyl Isomerase - genetics | Child | Hearing Loss - urine | Abnormalities, Multiple - genetics | Fibroblasts - metabolism | Connective tissues | Ehlers-Danlos syndrome | Gene mutations | Protein folding | Physiological aspects | Causes of | Genetic aspects | Research | Medical colleges | Isomerization | Proteins | Genetic research | Mutation | Hearing impairment | Medical disorders | Cells | Index Medicus
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6. Full Text Muscular dystrophies
by Mercuri, Eugenio and Bönnemann, Carsten G and Muntoni, Francesco
The Lancet (British edition), ISSN 0140-6736, 11/2019, Volume 394, Issue 10213, pp. 2025 - 2038
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Muscular Dystrophies - diagnosis | Muscular Dystrophies - therapy | Muscular Dystrophies - genetics | Humans | Muscular Dystrophies - classification | Medical research | Nervous system diseases | Medicine, Experimental | Research institutes | Children | Health aspects | Pediatric neurology | Enzymes | Congenital diseases | Complications | Pathogenesis | Genes | Muscles | Glycoproteins | Muscular dystrophy | Quality of life | Proteins | Developmental stages | Biopsy | Collagen | Duchenne's muscular dystrophy | Extracellular matrix | Diagnostic systems | Mutation | Dystrophy | Gene therapy | Endoplasmic reticulum | Index Medicus | Abridged Index Medicus
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