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Pakistan Law Reporter. November 29, 2023
Academic Journal
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 28(5):405-410
Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Academic Journal
Desguerre I; IHU Imagine, Paris University, 24, Boulevard du Montparnasse, 75015, Paris, France.; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France.; Barrois R; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France. remi.barrois@aphp.fr.; Audic F; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France.; Barnerias C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France.; Chabrol B; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France.; Davion JB; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Lille University Hospital Center, 2 avenue Oscar Lambret, 59000, Lille, France.; Durigneux J; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Angers University Hospital Center, 4 rue Larrey, 49933, Angers, France.; Espil-Taris C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Pellegrin University Hospital Center, Hôpital des Enfants, place Amélie-Raba-Léon, 33086, Bordeaux, France.; Gomez-Garcia de la Banda M; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France.; Guichard M; Department of Pediatric Neurology and Handicaps, French Competence Center for Neuromuscular Diseases, Boulevard Tonnellé, Hôpital Clocheville, 2 Boulevard Tonnellé, 37000, Tours, France.; Isapof A; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France.; Nougues MC; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France.; Laugel V; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Strasbourg University Hospital Center, Hôpital de Hautepierre, 1 avenue Molière, 67098, Strasbourg, France.; Le Goff L; Department of Neuromuscular Pathology, French Reference Center for Neuromuscular Diseases, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, -Bron, 59 boulevard Pinel, 69677, Lyon-Bron, France.; Mercier S; Department of Medical Genetics, French Reference Center for Neuromuscular Diseases, Nantes University Hospital Center, 1 Place Alexis-Ricordeau, 44093, Nantes, France.; Pervillé A; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Hôpital d'Enfants ASFA, CS 81010, 97404, Saint Denis Cedex, Réunion, France.; Richelme C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Nice University Hospital Center, Hôpital Lenval, 57 Avenue de la Californie, 06200, Nice, France.; Thibaud M; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, American Memorial Hospital, Reims University Hospital Center, 49 Rue Cognacq Jay, 51092, Reims, France.; Sarret C; CMR Neuromusculaire, French Reference Center for Neuromuscular Diseases, Clermont-Ferrand University Hospital Center, Clermont-Ferrand, France.; Schweitzer C; Department of Infant Medicine, French Reference Center for Neuromuscular Diseases, Nancy University Hospital Center, Rue du Morvan, 54511, Vandoeuvre lès Nancy, France.; Testard H; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Grenoble University Hospital Center, Hôpital Couple Enfant, Quai Yermolof, 38700, Grenoble, France.; Trommsdorff V; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, University Hospital Center, Avenue François Mitterrand, BP 350, 97448, Saint Pierre Cedex, Réunion, France.; Vanhulle C; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Rouen University Hospital Center, Charles Nicolle, 1 Rue de Germont, 76031, Rouen, France.; Walther-Louvier U; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, University Hospital Center Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier, France.; Altuzarra C; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, Besançon University Hospital Center - Hôpital Jean Minjoz, 3 boulevard A. Fleming, 25030, Besançon, France.; Chouchane M; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Dijon University Hospital Center, Hôpital d'Enfants, 14 rue Paul Gaffarel, 21079, Dijon, France.; Ropars J; LaTIM INSERM UMR 1101, French Reference Center for Neuromuscular Diseases Brest University Hospital Center, Hôpital Morvan, Boulevard Tanguy Prigent, 29609, Brest, France.; Quijano-Roy S; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France.; Cances C; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Toulouse, 330 av de Grande Bretagne-TSA, 31059, Toulouse, France.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Fontaine Carbonnel S; Department of Pediatric Physical Medicine and Rehabilitation, Hôpital Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, Bron F-69677, CEDEX, France. Electronic address: stephanie.fontaine01@chu-lyon.fr.; Dabaj I; UNIROUEN, Inserm U1245, Department of Neonatology, Pediatric Intensive Care and Neuropediatrics, Normandie University, CHU Rouen F-76000, Rouen, France.; de Montferrand C; Department of Pediatric Physical Medicine and Rehabilitation, Hôpital Mère Enfant, Hospices Civils de Lyon, 59 Boulevard Pinel, Bron F-69677, CEDEX, France.; Rippert P; Service Recherche et Epidémiologie Cliniques, Hospices Civils de Lyon, Pôle Santé Publique, 162 Avenue Lacassagne, Lyon F-69003, France.; Laugel V; Department of pediatric neurology, Strasbourg University Hospital, 1 avenue Moliere, Strasbourg F-67098, France.; De Lucia S; Assistance Publique Hôpitaux de Paris, Sorbonne Université, Institut de Myologie, AFM-Téléthon, Essais cliniques I-Motion Enfants, Hôpital Armand Trousseau, Paris F-75012, France.; Ravelli C; Assistance Publique Hôpitaux de Paris, Sorbonne Université, Institut de Myologie, AFM-Téléthon, Essais cliniques I-Motion Enfants, Hôpital Armand Trousseau, Paris F-75012, France.; Seferian A; Assistance Publique Hôpitaux de Paris, Sorbonne Université, Institut de Myologie, AFM-Téléthon, Essais cliniques I-Motion Enfants, Hôpital Armand Trousseau, Paris F-75012, France.; Ropars J; Service de pédiatrie, CHU Brest, 2 Avenue Foch, Brest F-29609, France.; Cances C; Unit of Pediatric Neurology, French Greater South-West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Toulouse, 330 Avenue de Grande Bretagne-TSA, Toulouse Cedex F-31059, France.
Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X (Electronic) Linking ISSN: 0929693X NLM ISO Abbreviation: Arch Pediatr Subsets: MEDLINE
Academic Journal
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Academic Journal
Rajamani G; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Stafki SA; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Daugherty AL; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Mantyh WG; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Littel HR; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Bruels CC; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Pacak CA; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Robbins PD; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Niedernhofer LJ; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Abiona A; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Giunti P; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Mohammed S; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Laugel V; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.; Kang PB; University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE
Academic Journal
Guet-Revillet, H.; Levy, C.; Vallet, C.; Maghraoui-Slim, V.; Dommergues, M.-A.; Hentgen, V.; Paget, C.; Laugel, V.; Cohen, R.; Ferroni, A.
In Archives de pédiatrie April 2019 26(3):133-137
Academic Journal
Bugueno, I.M.; Rey, T.; Jimenez-Armijo, A.; Herault, Y.; Bloch-Zupan, A.; Haushalter-Laugel, V.; Kharouf, N.; Manière, M.-C.; Kawczynski, M.
In: Genes and Diseases . (Genes and Diseases, September 2024, 11(5))
Academic Journal
Orphanet Journal of Rare Diseases. 16(1)
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