부산대학교 도서관

Villar-Quiles, RN ; Hayes, LH ; Raga, S ; Bönnemann, C ; Oates, E ; Dowling, J ; Ferreiro, A

In Neuromuscular Disorders March 2026 60

Muntoni, F ; Bertini, E ; Bönnemann, C ; Brockington, M ; Brown, S ; Bushby, K ; Fiszman, M ; Körner, C ; Mercuri, E ; Merlini, L ; Hewitt, J ; Quijano-Roy, S ; Romero, N ; Squarzoni, S ; Sewry, C.A ; Straub, V ; Topaloglu, H ; Haliloglu, G ; Voit, T ; Wewer, U ; Guicheney, P

In Neuromuscular Disorders 2002 12(9):889-896

Beckmann, J.S ; Brown, R.H ; Muntoni, F ; Urtizberea, A ; Bonnemann, C ; Bushby, K.M.D

In Neuromuscular Disorders 1999 9(6):436-445

Dima, D; Roiser, JP; Dietrich, DE; Bonnemann, C; Lanfermann, H; Emrich, HM; Dillo, W

In Neuroimage 2009 47 Supplement 1:S135-S135

Natera-de Benito, D; Reghan-Foley, A; Domínguez-González, C; Ortez, C; Jain, M; Mebrahtu, A; Donkervoort, S; Hu, Y; Fink, M; Yun, P; Ogata, T; Medina, J; Díaz-Manera, J; Carrera-García, L; Expósito-Escudero, J; Olivé, M; Colomer, J; Jiménez-Mallebrera, C; Bonnemann, C; Nascimento, A

NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Pham, HT; Kram, V; Dar, Q-A; Komori, T; Ji, Y; Mohassel, P; Rooney, J; Li, L; Kilts, TM; Bonnemann, C; Lamande, S; Young, MF

Sci Rep

Servián-Morilla E; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Cabrera-Serrano M; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Johnson K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Pandey A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Ito A; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Rivas E; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.; Chamova T; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Muelas N; Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain.; Mongini T; Neuromuscular Unit, Department of Neuroscience 'Rita Levi Montalcini', University of Torino, Torino, Italy.; Nafissi S; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.; Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Grewal RP; Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA.; Takeuchi M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Hao H; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Lopes Abath Neto O; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Medne L; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.; Brandsema J; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.; Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Taneva A; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Vilchez JJ; Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain.; Tournev I; Department of Neurology, Clinic of Nervous Diseases, University Hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.; Haltiwanger RS; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.; Takeuchi H; Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.; Jafar-Nejad H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Paradas C; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. cparadas@us.es.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Perez, GF; Shieh, P; Kuntz, N; Dowling, J; Mueller-Felber, W; Blaschek, A; Bonnemann, C; Foley, A; Saade, D; Seferian, A; Servais, L; Lawlor, M; MacBean, V; Coats, J; Han, C; Lee, J; Noursalehi, M; Prasad, S; Rico, S; Miller, W; Graham, R

B49. SLEEP, CHEST WALL, AND NEUROMUSCULAR - OH MY!. :A3003-A3003

Shieh, P; Mueller-Felber, W; Smith, B; Bonnemann, C; Dowling, J; Kuntz, N; Muntoni, F; Servais, L; Bilder, D; Duong, T; Graham, R; Jain, M; Lawlor, M; MacBean, V; Noursalehi, M; Pitts, T; Rafferty, G; Rico, S; Prasad, S

23rd International Annual Congress of the World-Muscle-Society (WMS)

Vanderver, A.; Tonduti, D.; Kahn, I.; Schmidt, J.; Medne, L.; Vento, J.; Chapman, K.A.; Lanpher, B.; Pearl, P.; Gropman, A.; Lourenco, C.; Bamforth, J.S.; Sharpe, C.; Pineda, M.; Schallner, J.; Bodamer, O.; Orcesi, S.; Oberstein, S.A.; Sistermans, E.A.; Yntema, H.G.; Bonnemann, C.; Waldman, A.T.; van der Knaap, M.S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Vanderver, A, Tonduti, D, Kahn, I, Schmidt, J, Medne, L, Vento, J, Chapman, K A, Lanpher, B, Pearl, P, Gropman, A, Lourenco, C, Bamforth, J S, Sharpe, C, Pineda, M, Schallner, J, Bodamer, O, Orcesi, S, Oberstein, S A J L, Sistermans, E A, Yntema, H G, Bonnemann, C, Waldman, A T & van der Knaap, M S 2014, 'Characteristic Brain Magnetic Resonance Imaging Pattern in Patients With Macrocephaly and PTEN Mutations', American Journal of Medical Genetics Part A, vol. 164, no. 3, pp. 627-633. https://doi.org/10.1002/ajmg.a.36309
American Journal of Medical Genetics. Part A, 164, 3, pp. 627-33

Natera-de Benito, D; Foley, AR; Diaz-Manera, J; Fink, M; Mebrahtu, A; Minal, J; Donkervoort, S; Hu, Y; Cuadras, D; Carrera-Garcia, L; Alarcón, M; Milisenda, J; Dominguez, R; Olive, M; Jou, C; Colomer, J; Jimenez-Mallebrera, C; Bonnemann, C; Nascimento, A

NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Fan Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Liu A; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Wei C; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Yang H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Chang X; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Wang S; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Bonnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland.; Wu Q; Human Genetics Resources Core Facility, School of Life Sciences, Peking University, Beijing, China.; Wu X; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Brockmann, K; Simpson, M A; Faber, A; Bönnemann, C; Crosby, A H; Gärtner, J

Neuropediatrics. 36:274-278

Leach, M; Donkervoort, S; Chan, HSS; Bradley, N; Foley, A; Nguyen, D; Hu, Y; Bönnemann, C; Moore, S; Nance, J; Reyes, C; Thangarajh, M

Neuromuscular Disorders. 25:S286-S287

Bannerman PG; Hahn A; Ramirez S; Morley M; Bönnemann C; Yu S; Zhang G; Rostami A; Pleasure D; Bannerman, P G; Hahn, A; Ramirez, S; Morley, M; Bönnemann, C; Yu, S; Zhang, G-X; Rostami, A; Pleasure, D

Brain: A Journal of Neurology (BRAIN), Aug2005; 128(8): 1877-1886. (10p)

Altenhöner T; Fakultät für Gesundheitswissenschaften, AG Epidemiologie & International Public Health, Universität Bielefeld, Bielefeld, Deutschland. taltenhoener@htw-saarland.de; Dorendorf E; Razum O; Hertrich M; Bonnemann C

Publisher: Springer Country of Publication: Germany NLM ID: 0414162 Publication Model: Print Cited Medium: Internet ISSN: 1435-1250 (Electronic) Linking ISSN: 03401855 NLM ISO Abbreviation: Z Rheumatol Subsets: MEDLINE

Dabaj, I; Ben, Yaou R; Bonnemann, C; Nascimento, A; Rutkowski, A; Erazo, Torricelli R; Muntoni, F; Lagrue, E; Dowling, J; Bushby, K

NEUROMUSCULAR DISORDERS. 27:S138-S138

Sáenz A; Unidad Experimental, Hospital Donostia, San Sebastián, Basque Country, Spain. uniexpe2@chdo.osakidetza.net; Leturcq F; Cobo AM; Poza JJ; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan JC; Urtizberea JA; Martí-Massó JF; López de Munain A

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Lucioli, S; Giusti, B; Mercuri, E; Vanegas, OC; Lucarini, L; Pietroni, V; Urtizberea, A; Ben Yaou, R; de Visser, M; van der Kooi, AJ; Bonnemann, C; Iannaccone, ST; Merlini, L; Bushby, K; Muntoni, F; Bertini, E; Chu, ML; Pepe, G

NEUROLOGY; JUN 14 2005, 64 11, p1931-p1937, 7p.

Mercuri, E; Lampe, A; Allsop, J; Knight, R; Pane, M; Kinali, M; Bonnemann, C; Flanigan, K; Lapini, A; Bushby, K; Pepe, G; Muntoni, F

NEUROMUSCULAR DISORDERS; APR 2005, 15 4, p303-p310, 8p.