Zobrazeno 1 - 10
of 5 159
pro vyhledávání: '"Nemaline"'
Autor:
Gunawardena K; Pediatric Neurology Department, Lady Ridgeway Hospital for Children, Colombo 08, Sri Lanka. kawmadigunawardena@gmail.com.; Department of Anatomy, Genetics and Bioinformatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka. kawmadigunawardena@gmail.com., Praveenan S; Department of Anatomy, Genetics and Bioinformatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka., Dissanayake VHW; Department of Anatomy, Genetics and Bioinformatics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka., Ratnayake P; Pediatric Neurology Department, Lady Ridgeway Hospital for Children, Colombo 08, Sri Lanka.
Publikováno v:
Journal of medical case reports [J Med Case Rep] 2024 Sep 04; Vol. 18 (1), pp. 420. Date of Electronic Publication: 2024 Sep 04.
Autor:
Martínez-Diago C; Department of Maternal-Fetal Medicine, Hospital Universitari Dr Josep Trueta, Girona, Spain., Mademont-Soler I; Department of Genetics, Hospital Universitari Dr Josep Trueta, Girona, Spain., Bonmatí A; Department of Maternal-Fetal Medicine, Hospital Universitari Dr Josep Trueta, Girona, Spain., Rodo C; Department of Fetal Medicine, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Alberch A; Department of Maternal-Fetal Medicine, Hospital Universitari Dr Josep Trueta, Girona, Spain., Obon M; Department of Genetics, Hospital Universitari Dr Josep Trueta, Girona, Spain., Fuertes B; Department of Pathology, Hospital Universitari Dr Josep Trueta, Girona, Spain., Maroto A; Department of Maternal-Fetal Medicine, Hospital Universitari Dr Josep Trueta, Girona, Spain.
Publikováno v:
Prenatal diagnosis [Prenat Diagn] 2024 Jul; Vol. 44 (8), pp. 996-998. Date of Electronic Publication: 2024 Apr 26.
Autor:
van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., van de Camp SAJH; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Nijmegen, the Netherlands., Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center- Amalia Children's Hospital, Nijmegen, the Netherlands., Gaytant MA; Center for Home Mechanical Ventilation, Department of Pulmonology, University Medical Center Utrecht, Utrecht, the Netherlands., Vosse BAH; Department of Pulmonary Diseases, Maastricht University Medical Center, Maastricht, the Netherlands., de Weerd W; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands., Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Medici-Van den Herik EG; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands., Wallgren-Pettersson C; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands., Schouten M; Department of Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, the Netherlands., Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Oct; Vol. 43, pp. 29-38. Date of Electronic Publication: 2024 Aug 03.
Autor:
Fabian L; Genetics and Genome Biology Program, Hospital for Sick Children, 555 University Ave., Toronto, ON M5G 1X8, Canada., Karimi E; Department of Cellular and Molecular Medicine, University of Arizona, 1007 E. Lowell Street, Tucson, AZ 85724, United States., Farman GP; Department of Cellular and Molecular Medicine, University of Arizona, 1007 E. Lowell Street, Tucson, AZ 85724, United States., Gohlke J; Department of Cellular and Molecular Medicine, University of Arizona, 1007 E. Lowell Street, Tucson, AZ 85724, United States., Ottenheijm CAC; Department of Physiology, Amsterdam University Medical Center (location VUMC), De Boelelaan 1108, Amsterdam 1081 HZ, The Netherlands., Granzier HL; Department of Cellular and Molecular Medicine, University of Arizona, 1007 E. Lowell Street, Tucson, AZ 85724, United States., Dowling JJ; Genetics and Genome Biology Program, Hospital for Sick Children, 555 University Ave., Toronto, ON M5G 1X8, Canada.; Division of Neurology, Hospital for Sick Children, 555 University Ave., Toronto, ON M5G 1X8, Canada.; Departments of Paediatrics and Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON M5S 1A8, Canada.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Jun 05; Vol. 33 (12), pp. 1036-1054.
Autor:
Yavaş C; Department of Molecular Biology and Genetics, Biruni University, Karanfil St. No:1H/12, Beylikduzu, Istanbul, 34100, Turkey. cyavas@biruni.edu.tr., Doğan M; Genetic Diseases Assessment Center, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Eröz R; Department of Medical Genetics Medical Faculty, Aksaray University, Aksaray, Turkey., Türegün K; Department of Biotechnology, Institute of Science and Technology, Yıldız Technical University, Istanbul, Turkey.
Publikováno v:
Genes & genomics [Genes Genomics] 2024 May; Vol. 46 (5), pp. 613-620. Date of Electronic Publication: 2024 Feb 16.
Autor:
Karimi E; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., Gohlke J; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., van der Borgh M; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., Lindqvist J; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., Hourani Z; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., Kolb J; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA., Cossette S; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA., Lawlor MW; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.; Diverge Translational Science Laboratory, Milwaukee, WI, USA., Ottenheijm C; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA.; Department of Physiology, Amsterdam UMC (Location VUMC), Amsterdam, Netherlands., Granzier H; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA. granzier@arizona.edu.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2024 Apr 18; Vol. 147 (1), pp. 72. Date of Electronic Publication: 2024 Apr 18.
Autor:
Dalal N; Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Naranje K; Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Moriangthem A; Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Singh A; Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India dranitasinghk@gmail.com.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2024 Jun 12; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 12.
Autor:
Wang Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Liu W; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Yang Y; School of Nursing, Jining Medical University, Jining 272067, Shandong, People's Republic of China., Wang Y; Prenatal Diagnostic Center of Obstetrics and Gynecology Department, Qilu Hospital, Shandong University, Jinan 250012, Shandong, People's Republic of China., Tang Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Zhan Z; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Sun X; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Jiao Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Shan D; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Zhang R; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Wang D; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Sun P; Prenatal Diagnostic Center of Obstetrics and Gynecology Department, Qilu Hospital, Shandong University, Jinan 250012, Shandong, People's Republic of China., Sun X; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China., Liu F; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong, People's Republic of China. Electronic address: fuchen.liu@email.sdu.edu.cn.
Publikováno v:
Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103435. Date of Electronic Publication: 2024 Apr 30.
Autor:
Shammas I; From the Department of Neurology (I.S., E.N.), Mayo Clinic, Rochester, MN; and Department of Internal Medicine (R.A.), College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alhammad R; From the Department of Neurology (I.S., E.N.), Mayo Clinic, Rochester, MN; and Department of Internal Medicine (R.A.), College of Medicine, King Saud University, Riyadh, Saudi Arabia., Naddaf E; From the Department of Neurology (I.S., E.N.), Mayo Clinic, Rochester, MN; and Department of Internal Medicine (R.A.), College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Publikováno v:
Neurology [Neurology] 2024 May; Vol. 102 (10), pp. e209477. Date of Electronic Publication: 2024 Apr 24.
Autor:
Galli RA; Amsterdam UMC Location Vrije Universiteit Amsterdam, Physiology , Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Musculoskeletal Health and Tissue Function and Regeneration, Amsterdam, The Netherlands., Borsboom TC; Amsterdam UMC Location Vrije Universiteit Amsterdam, Physiology , Amsterdam, The Netherlands., Gineste C; Aix-Marseille University, CNRS, CRMBM , Marseille, France., Brocca L; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Rossi M; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Hwee DT; Research and Early Development, Cytokinetics Inc. , South San Francisco, CA, USA., Malik FI; Research and Early Development, Cytokinetics Inc. , South San Francisco, CA, USA., Bottinelli R; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; IRCCS Mondino Foundation , Pavia, Italy., Gondin J; Aix-Marseille University, CNRS, CRMBM , Marseille, France.; Institut NeuroMyoGène, Unité Physiopathologie et Génétique du Neurone et du Muscle, Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, Université Lyon , Lyon, France., Pellegrino MA; Department of Molecular Medicine, University of Pavia, Pavia, Italy., de Winter JM; Amsterdam UMC Location Vrije Universiteit Amsterdam, Physiology , Amsterdam, The Netherlands.; Amsterdam Movement Sciences, Musculoskeletal Health and Tissue Function and Regeneration, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam, The Netherlands., Ottenheijm CAC; Amsterdam UMC Location Vrije Universiteit Amsterdam, Physiology , Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Pulmonary Hypertension and Atherosclerosis, Amsterdam, The Netherlands.; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ, USA.
Publikováno v:
The Journal of general physiology [J Gen Physiol] 2024 Apr 01; Vol. 156 (4). Date of Electronic Publication: 2024 Feb 20.