J
J.J. Martin
Researcher at University of Antwerp
Publications - 67
Citations - 3056
J.J. Martin is an academic researcher from University of Antwerp. The author has contributed to research in topics: Myopathy & Muscle biopsy. The author has an hindex of 27, co-authored 66 publications receiving 2953 citations. Previous affiliations of J.J. Martin include Elsevier.
Papers
More filters
Journal ArticleDOI
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
P Raeymaekers,Vincent Timmerman,Eva Nelis,P. De Jonghe,Jessica E. Hoogendijk,Frank Baas,David F. Barker,J.J. Martin,M. de Visser,P.A. Bolhuis +9 more
TL;DR: It is proposed that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed, and different allelic combinations were found segregating with the duplicates in different families linkage disequilibrium was not a significant factor.
Journal ArticleDOI
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Albena Jordanova,P. De Jonghe,Cornelius F. Boerkoel,Hiroshi Takashima,E. De Vriendt,Chantal Ceuterick,J.J. Martin,Ian J. Butler,Pedro Mancias,S. Ch Papasozomenos,D. Terespolsky,Lorraine Potocki,Chester W. Brown,Michael E. Shy,D. A. Rita,Ivailo Tournev,Ivo Kremensky,James R. Lupski,Vincent Timmerman +18 more
TL;DR: The first nerve biopsy of a CMT patient with a de novo missense mutation in NEFL is reported, and an axonal pathology with axonal regeneration clusters and onion bulb formations is found, further evidence that the clinical variation observed in CMT depends on the gene mutated and the specific type of mutation.
Journal ArticleDOI
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
G. Van Goethem,Petri Luoma,Maria Rantamäki,A Al Memar,Seppo Kaakkola,Peter Hackman,Ralf Krahe,Ann Löfgren,J.J. Martin,P. De Jonghe,Anu Suomalainen,Bjarne Udd,C. Van Broeckhoven +12 more
TL;DR: The clinical spectrum of recessive POLG mutations is expanded by sensory ataxic neuropathy, combined with variable features of involvement of CNS and other organs.
Journal ArticleDOI
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
G. Van Goethem,J.J. Martin,Bart Dermaut,Ann Löfgren,A Wibail,D. Ververken,P. Tack,I. Dehaene,M. Van Zandijcke,M Moonen,Chantal Ceuterick,P. De Jonghe,C. Van Broeckhoven +12 more
TL;DR: The first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis is reported and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia.
Journal ArticleDOI
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.
TL;DR: The clinical, pathological, and genetic aspects of SCA7 are summarized, the current understanding of the pathogenesis of this disorder is reviewed, and the only polyglutamine disorder, in which the photoreceptors of the retina are also severely affected, leading to retinal degeneration and blindness is reviewed.