作者:
Giorgio,Tasca [1]
;
Mauro,Monforte [1]
;
Jordi,Díaz-Manera [2]
;
Giacomo,Brisca [3]
;
Claudio,Semplicini [4]
;
Adele,D'Amico [5]
;
Fabiana,Fattori [6]
;
Anna,Pichiecchio [6]
;
Angela,Berardinelli [7]
;
Lorenzo,Maggi [8]
;
Elio,Maccagnano [9]
;
Nicoline,Løkken [10]
;
Chiara,Marini-Bettolo [11]
;
Francina,Munell [12]
;
Angel,Sanchez [13]
;
Nahla,Alshaikh [14]
;
Nicol C,Voermans [15]
;
Jahannaz,Dastgir [16]
;
Dmitry,Vlodavets [17]
;
Jana,Haberlová [18]
;
Gianmichele,Magnano [19]
;
Maggie C,Walter [20]
;
Susana,Quijano-Roy [21]
;
Robert-Yves,Carlier [22]
;
Baziel G M,van Engelen [23]
;
John,Vissing [24]
;
Volker,Straub [17]
;
Carsten G,Bönnemann [12]
;
Eugenio,Mercuri [13]
;
Francesco,Muntoni [18]
;
Elena,Pegoraro [25]
;
Enrico,Bertini [16]
;
Bjarne,Udd [5]
;
Enzo,Ricci [6]
;
Claudio,Bruno [26]
作者单位:
Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario 'A Gemelli', Rome, Italy.
[1]
Department of Neurology, Neuromuscular Disorders Unit, Universitat Autonoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
[2]
Muscular and Neurodegenerative Disease, Centro de Investigación Biomédica en Red en Enfermedades Raras, Barcelona, Spain.
[3]
Center of Translational Myology and Neurodegenerative Diseases, Istituto Giannina Gaslini, Genova, Italy.
[4]
Department of Neuroscience, University of Padova, Padova, Italy.
[5]
Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
[6]
Department of Neuroradiology, National Neurological Institute C Mondino, Pavia, Italy.
[7]
Child Neurology and Psychiatry Unit, National Neurological Institute C Mondino, Pavia, Italy.
[8]
UO Neuroimmunologia e Malattie Neuromuscolari, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
[9]
UO Neuroradiologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
[10]
Servizio di Diagnostica per Immagini, Centro Diagnostico Italiano, Milan, Italy.
[11]
Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
[12]
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
[13]
Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
[14]
Department of Radiology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
[15]
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
[16]
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
[17]
National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
[18]
Russian Children Neuromuscular Center, Veltischev Scientific Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.
[19]
Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
[20]
Radiology Unit, Istituto Giannina Gaslini, Genova, Italy.
[21]
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
[22]
Assistance Publique des Hôpitaux de Paris (AP-HP), Unité Neuromusculaire, Service de Pédiatrie, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, U1179 INSERM, Université de Versailles (UVSQ), Centre de Référence Neuromusculaire GNMH, FILNEMUS, France.
[23]
Department of Radiology, Neurolocomotor Division, Raymond Poincaré Hospital, University Hospitals Paris-Ile-de-France West, Public Hospital Network of Paris, Garches, France.
[24]
Neuropsichiatria Infantile, Università Cattolica del Sacro Cuore, Rome, Italy.
[25]
Department of Neurology, Neuromuscular Research Center, Tampere University and University Hospital, Rome, Italy.
[26]
Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
[27]
Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
[28]
主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);欧洲(Europe);女(雌)性(Female);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);肌, 骨骼(Muscle, Skeletal);突变(Mutation);表型(Phenotype);肌聚糖病(Sarcoglycanopathies);肌聚糖类(Sarcoglycans);美国(United States)
DOI
10.1136/jnnp-2017-316736
PMID
28889091
发布时间
2019-01-27
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Journal of neurology, neurosurgery, and psychiatry
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