Browsing by Author De Jonghe, P.

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Issue DateTitleAuthor(s)Citation
2002Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?Kennerson, Marina; Nicholson, Garth; Auer-Grumbach, M.; De Jonghe, P.; De Vriendt, E.; Hartung, H.-P; Irobi, J.; Plecko, B.; Van Gerwen, V.; Wagner, K.; Zhu, D.; Zimmerman, V.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteAutosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?, Brain, vol.125,(6),2002,pp 1320-1325
2002Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyKennerson, Marina; Nicholson, Garth; Auer-Grumbach, M.; Brahmbhatt, Sonal; Dawkins, Jennifer L.; De Jonghe, P.; Hartung, H.-P; LeGuern, Eric; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteExclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy, Neuromuscular Disorders, vol.12, 7-8,pp 656-658
2015Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKennerson, Marina; Bervoets, Sven; Bichev, Stoyan; Chamova, Teodora; De Jonghe, P.; De Vriendt, Els; Jordanova, Albena; Kancheva, Dahlia; Litvinenko, Ivan; MacMillan, John; Mitev, Vanyo; Peeters, Kristien; Timmerman, Vincent; Tournev, Ivailo; Concord Clinical School: ANZAC Research InstituteNovel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies, Human Mutation, vol.36, 3, 2015,pp 287-291