Zobrazeno 1 - 10
of 5 199
pro vyhledávání: '"hereditary sensory"'
Autor:
Ahmed AN; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan., Rawlins LE; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK. l.rawlins@exeter.ac.uk.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK. l.rawlins@exeter.ac.uk., Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan., Jan Z; Department of Neurology, Pakistan Institute of Medical Science, Islamabad, 44000, Pakistan., Ubeyratna N; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Voutsina N; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Azeem A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan., Baple EL; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Crosby AH; Medical Research, RILD Wellcome Wolfson Centre (Level 4), Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, EX2 5DW, UK., Saleha S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, 26000, Pakistan. shamimsaleha@yahoo.com.
Publikováno v:
BMC neurology [BMC Neurol] 2024 Oct 16; Vol. 24 (1), pp. 394. Date of Electronic Publication: 2024 Oct 16.
Autor:
Gu J; Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China. gjx69@163.com., Liu Z, Shi Y, Gu J
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Sep 10; Vol. 41 (9), pp. 1139-1143.
Autor:
Li S; Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Ren X; Pediatric Orthopedics, Children's Hospital of Soochow University, Suzhou, China., Guan Y; Department of Anesthesiology and Critical Care Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, United States., Zhao F; Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Cao Y; Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Geng X; Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Wang Y; Department of Pediatric Orthopedics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China., Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Wu L; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics & Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China., Zhao X; Department of Medical Genetics, State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.; Pediatric Orthopedics, Children's Hospital of Soochow University, Suzhou, China.
Publikováno v:
Pain [Pain] 2024 Sep 01; Vol. 165 (9), pp. 1926-1943. Date of Electronic Publication: 2024 May 31.
Autor:
Sreenivasan V; Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Karunakar P; Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Madhileti S; Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Govindaswamy Ramamoorthy J; Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Gulati R; Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Publikováno v:
Paediatrics and international child health [Paediatr Int Child Health] 2024 Aug; Vol. 44 (2), pp. 59-62. Date of Electronic Publication: 2024 Apr 24.
Autor:
Zhang B; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China., Gang Q; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China., Meng L; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China., Li Z; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China., Chu X; Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China., Wu H; Department of Neurology, Qujing First People's Hospital, Yunnan, 655000, Qujing, China., Yang J; Department of Neurology, Qujing First People's Hospital, Yunnan, 655000, Qujing, China., Huang B; Department of Neurology, Qujing First People's Hospital, Yunnan, 655000, Qujing, China. huangbaogangxf@126.com., Du K; Department of Neurology, Qujing First People's Hospital, Yunnan, 655000, Qujing, China. dukangyn@126.com.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Sep 04; Vol. 17 (1), pp. 223. Date of Electronic Publication: 2024 Sep 04.
Autor:
Khalaf-Nazzal R; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine., Dweikat I; Faculty of Medicine, Arab American University of Palestine, Jenin, Palestine., Ubeyratna N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Fasham J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Alawneh M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Leslie J; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Maree M; Department of Medicine, College of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine., Gunning A; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Zayed DZ; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Voutsina N; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., McGavin L; University Hospitals Plymouth NHS Trust, Plymouth, UK.; University of Plymouth, Plymouth, UK., Sawafta R; Paediatric Department, An-Najah National University Hospital, Nablus, Palestine., Owens M; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Baker W; Paediatric Department, Dr. Khalil Suleiman Government Hospital, Jenin, Palestine., Turnpenny P; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Al-Hijawi F; Paediatric Community Outpatient Clinics, Palestinian Ministry of Health, Jenin, Palestine., Baple EL; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK., Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, Royal Devon University Hospitals NHS Foundation Trust, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, UK.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63579. Date of Electronic Publication: 2024 Mar 04.
Autor:
Ghafoor S; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Rafiq MA; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada., Abbas Shah ST; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Ansar M; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland., Paton T; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada., Ajmal M; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Agha Z; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Qamar R; Pakistan Academy of Sciences, Islamabad, Pakistan.; Science and Technology Sector, ICESCO, Rabat, Morocco., Azam M; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan.
Publikováno v:
The International journal of neuroscience [Int J Neurosci] 2024 Jun; Vol. 134 (6), pp. 665-675. Date of Electronic Publication: 2022 Nov 08.
Autor:
Theuriet J; Service d'ENMG et de pathologies neuromusculaires, centre de référence des maladies neuromusculaires PACA-Réunion-Rhône-Alpes, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Groupement Est, Bron, France.; Pathophysiology and Genetics of Neuron and Muscle, CNRS UMR 5261, INSERM U1315, Université Lyon 1, Faculté de Médecine Lyon Est, Lyon, France., Marte S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Isapof A; Service de Neurologie Pédiatrique, Hôpital Trousseau, Assistance Publique des Hôpitaux de Paris, Paris, France., de Becdelièvre A; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire de biologie médicale multisites SeqOIA - PFMG2025, Paris, France., Konyukh M; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire de biologie médicale multisites SeqOIA - PFMG2025, Paris, France., Laureano-Figueroa SM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Latour P; Service de Biochimie et Biologie Moléculaire, Unité fonctionnelle des pathologies neurologiques héréditaires, Hospices Civils de Lyon, Groupement Est, Bron, France., Quadrio I; Service de Biochimie et Biologie Moléculaire, Unité fonctionnelle des pathologies neurologiques héréditaires, Hospices Civils de Lyon, Groupement Est, Bron, France., Maisonobe T; Département de Neurophysiologie Clinique, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France., Antonellis A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Stojkovic T; Centre de référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Jun; Vol. 29 (2), pp. 275-278. Date of Electronic Publication: 2024 May 20.
Autor:
Cabras S; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; School of Advanced Studies, Center for Neuroscience, University of Camerino, Camerino, Italy., Di Pede F; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Canosa A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy., Grassano M; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mongini TE; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Neuromuscular Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; ERN Euro-NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Gadaleta G; Neuromuscular Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Calvo A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Chiò A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy.; ERN Euro-NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Moglia C; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy., Gallone S; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Jun; Vol. 69 (6), pp. 730-732. Date of Electronic Publication: 2024 Mar 27.
Autor:
Rochat J; Unité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France., Blavier A; Biokerden, 76130 Mont Saint-Aignan, France., Ruet S; Unité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France., Vasseur S; Unité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France., Puma A; Service Système Nerveux Périphérique et Muscle, Université Côte d'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France., Desnous B; Centre de Référence des Maladies Neuromusculaires de l'Enfant, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille 13915 Marseille, France., Chan V; Service de Neurologie et Unité Neuro-Vasculaire, Centre Hospitalier de Valence, 26953 Valence, France., Delmont E; Centre de Référence des Maladies Neuromusculaires et SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France., Attarian S; Centre de Référence des Maladies Neuromusculaires et SLA, Hôpital de la Timone, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France., Juntas Morales R; Centre de Reference des Maladies Neuromusculaires Atlantique Occitanie Caraïbe, Département de Neurologie, Centre Hospitalier Universitaire Montpellier, 34295 Montpellier, France., Quadrio I; Unité Neurogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France., Vidoni L; Unité Neurogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France., Bonello-Palot N; Département de Génétique Médicale, Hôpital Timone Enfants, Assistance Publique Hôpitaux de Marseille, 13915 Marseille, France., Cheillan D; Unité Pathologies Métaboliques, Érythrocytaires et Dépistage Périnatal, Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, 69500 Bron, France.; Laboratoire Carmen INSERM INRAE, Centre Hospitalier Lyon Sud, 69310 Pierre Bénite, France.
Publikováno v:
Genes [Genes (Basel)] 2024 May 26; Vol. 15 (6). Date of Electronic Publication: 2024 May 26.