Browsing by Author De Jonghe, Peter

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Issue DateTitleAuthor(s)Citation
2003Autosomal dominant inherited neuropathies with prominent sensory loss and mutilationsNicholson, Garth; Auer-Grumbach, M.; De Jonghe, Peter; Hartung, H.-P; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research InstituteAutosomal dominant inherited neuropathies with prominent sensory loss and mutilations, Archives of Neurology, vol.60,(3),2003,pp 329-334
2004Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4).Kennerson, Marina; Nicholson, Garth; Abel, Annette; Auer-Grumbach, M.; Bennett, Craig L.; Blair, Ian P.; Chance, Phillip; Chen, Ying-Zhang; Cornblath, David R.; De Jonghe, Peter; Dierick, Ines; Fischbeck, Kenneth H.; Griffin, John W.; Huynh, Huy M.; Irobi, J.; Puls, Imke; Rabin, Bruce A.; Timmerman, Vincent; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteDna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4)., American Journal of Human Genetics, vol.74,(6),2004,pp 1128-1135
2007Molecular consequences of dominant Bethlem myopathy collagen VI mutationsNorth, Kathryn; Peat, Rachel; Adams, Naomi E.; Baker, Naomi L; Ceulemans, Berten; De Jonghe, Peter; et, al; Gardner, R. J. McKinlay; Miller, Georgina F; Morgelin, Matthias; Pace, Rishika A.; Rowland, L. S.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineMolecular consequences of dominant Bethlem myopathy collagen VI mutations, Annals of Neurology, vol.62,(4),2007,pp 390-405
2005Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.Kennerson, Marina; Nicholson, Garth; Walizada, Gina; Zhu, Danqing; Claeys, Kristl; De Jonghe, Peter; et, al; Merory, John; Noureddine, Maher; Oliveira, Sofia A.; Speer, Marcy C.; Stenger, Judith E.; Verhoeven, Kristien; Z├╝chner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Medicine; Concord Clinical School: MedicineMutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease., Nature Genetics, vol.37,(3),2005,pp 289-294
2009Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKennerson, Marina; Nicholson, Garth; Baets, Jonathan; Berciano, Jose; Berneman, Zwi N.; Bienfait, Henriette; Claeys, Kristl; De Jonghe, Peter; De Veuster, Ilse; De Vriendt, Els; Garcia, Antonio; Lammens, Martin; Merory, John; Nelis, Eva; Storey, Elsdon; Timmerman, Vincent; Vance, Jefferey M.; Verhoeven, Kristien; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePhenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy, Brain, vol.132, 7, 2009,pp 1741-1752