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J. Irobi · SciRah

Researcher profile · Semantic Scholar

J. Irobi

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J. Irobi — researcher profile on SciRah

h-index: 25
Works: 47
Citations: 4,821

Most-cited papers

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Ying-Zhang Chen, Craig L. Bennett, H. M. Huynh, I. Blair +15 more
2004American Journal of Human Genetics836 citations Open access
Semantic Scholar
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
O. Evgrafov, I. Mersiyanova, J. Irobi, L. Van Den Bosch +22 more
2004Nature Genetics606 citations
Semantic Scholar
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
C. d’Ydewalle, J. Krishnan, Driss Chiheb, P. van Damme +6 more
2011Nature Medicine469 citations Open access
Semantic Scholar
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J. Irobi, Katrien Van Impe, P. Seeman, A. Jordanova +19 more
2004Nature Genetics438 citations Open access
Semantic Scholar
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C. Windpassinger, M. Auer-Grumbach, J. Irobi, H. Patel +16 more
2004Nature Genetics382 citations Open access
Semantic Scholar
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A. Jordanova, J. Irobi, F. Thomas, P. van Dijck +20 more
2006Nature Genetics378 citations Open access
Semantic Scholar
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
G. Kuhlenbäumer, M. Hannibal, E. Nelis, A. Schirmacher +23 more
2005Nature Genetics254 citations
Semantic Scholar
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance.
K. Peeters, I. Litvinenko, B. Asselbergh, L. Almeida-Souza +11 more
2013American Journal of Human Genetics129 citations Open access
Semantic Scholar
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Ines Dierick, J. Baets, J. Irobi, A. Jacobs +19 more
2007Brain : a journal of neurology119 citations
Semantic Scholar
Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy
L. Almeida-Souza, Sofie Goethals, V. de Winter, Ines Dierick +8 more
2010Journal of Biological Chemistry107 citations Open access
Semantic Scholar
Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy
L. Almeida-Souza, B. Asselbergh, C. d’Ydewalle, K. Moonens +10 more
2011Journal of Neuroscience105 citations Open access
Semantic Scholar
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
J. Irobi, P. Van den Bergh, L. Merlini, C. Verellen +11 more
2004Brain : a journal of neurology101 citations
Semantic Scholar
Mutant HSPB8 causes motor neuron-specific neurite degeneration
J. Irobi, L. Almeida-Souza, B. Asselbergh, V. de Winter +9 more
2010Human Molecular Genetics93 citations Open access
Semantic Scholar
Molecular genetics of distal hereditary motor neuropathies.
J. Irobi, P. de Jonghe, V. Timmerman
2004Human Molecular Genetics89 citations
Semantic Scholar
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
P. de Jonghe, M. Auer-Grumbach, J. Irobi, K. Wagner +8 more
2002Brain : a journal of neurology79 citations
Semantic Scholar
Unraveling the genetics of distal hereditary motor neuronopathies
J. Irobi, Ines Dierick, A. Jordanova, Kristl G. Clayes +2 more
2007Neuromolecular medicine75 citations
Semantic Scholar
A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
D. Bouhy, M. Juneja, I. Katona, A. Holmgren +10 more
2017Acta Neuropathologica74 citations Open access
Semantic Scholar
Angiogenic Effects of Human Dental Pulp and Bone Marrow-Derived Mesenchymal Stromal Cells and their Extracellular Vesicles
G. Merckx, Baharak Hosseinkhani, Sören Kuypers, Sarah Deville +5 more
2020Cells73 citations Open access
Semantic Scholar
Small heat shock proteins in inherited peripheral neuropathies
Ines Dierick, J. Irobi, P. de Jonghe, V. Timmerman
2005Annals medicus58 citations Open access
Semantic Scholar
Charcot–Marie–Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
A. Holmgren, D. Bouhy, V. de Winter, B. Asselbergh +3 more
2013Acta Neuropathologica50 citations Open access
Semantic Scholar
Microglial derived extracellular vesicles activate autophagy and mediate multi‐target signaling to maintain cellular homeostasis
B. van den Broek, I. Pintelon, I. Hamad, S. Kessels +10 more
2020Journal of Extracellular Vesicles46 citations Open access
Semantic Scholar
Extracellular vesicle-associated lipids in central nervous system disorders.
Sam Vanherle, Mansour Haidar, J. Irobi, Jeroen F. J. Bogie +1 more
2020Advanced Drug Delivery Reviews43 citations
Semantic Scholar
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response
Ines Dierick, J. Irobi, S. Janssens, J. Theuns +9 more
2007Human Mutation39 citations Open access
Semantic Scholar
Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients.
J. Irobi, A. Holmgren, V. de Winter, B. Asselbergh +6 more
2012Neuromuscular Disorders36 citations
Semantic Scholar
Genetic identification of Candida species in HIV-positive patients using the polymerase chain reaction and restriction fragment length polymorphism analysis of its DNA.
J. Irobi, A. Schoofs, H. Goossens
1999Molecular and Cellular Probes31 citations
Semantic Scholar
Extracellular vesicle-associated small heat shock proteins as therapeutic agents in neurodegenerative diseases and beyond.
B. van den Broek, Charlotte Wuyts, J. Irobi
2021Advanced Drug Delivery Reviews21 citations
Semantic Scholar
Oligodendroglia-derived extracellular vesicles activate autophagy via LC3B/BAG3 to protect against oxidative stress with an enhanced effect for HSPB8 enriched vesicles
B. van den Broek, Charlotte Wuyts, A. Sisto, I. Pintelon +5 more
2022Cell Communication and Signaling18 citations Open access
Semantic Scholar
Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
S. Reddel, R. Ouvrier, G. Nicholson, I. Dierick +3 more
2008Neuromuscular Disorders17 citations
Semantic Scholar
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.
J. Irobi, Fadel Tissir, P. de Jonghe, E. De Vriendt +3 more
2000Genomics13 citations
Semantic Scholar
Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies
E. Nelis, J. Irobi, E. De Vriendt, V. van Gerwen +8 more
20017 citations
Semantic Scholar
Characterization of Drug Resistance Mutations in Mycobacterium tuberculosis Isolates from Moroccan Patients Using Deeplex Targeted Next-Generation Sequencing
Said Laatri, Safaa El Kassimi, El Mehdi Bentaleb, M. E. El Messaoudi +4 more
2025Microorganisms6 citations Open access
Semantic Scholar
Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics
V. Timmerman, J. Beuten, J. Irobi, P. Jonghe +2 more
1999Annals of the New York Academy of Sciences6 citations
Semantic Scholar
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
J. Irobi, E. Nelis, K. Verhoeven, E. De Vriendt +4 more
2002Journal of the peripheral nervous system5 citations
Semantic Scholar
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies
K. Venken, J. Meuleman, J. Irobi, C. Ceuterick +3 more
2001NeuroReport5 citations
Semantic Scholar
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.
V. Timmerman, J. Beuten, J. Irobi, P. de Jonghe +2 more
1999Annals of the New York Academy of Sciences5 citations
Semantic Scholar
Andermann Syndrome in a Turkish Patient
E. Demir, J. Irobi, S. Erdem, M. Demirci +4 more
2003Journal of Child Neurology4 citations
Semantic Scholar
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
J. Irobi, E. Nelis, J. Meuleman, K. Venken +3 more
2001Annals of Human Genetics3 citations Open access
Semantic Scholar
Unraveling the genetics of distal hereditary motor neuronopathies
J. Irobi, Ines Dierick, A. Jordanova, Kristl G. Clayes +2 more
20062 citations
Semantic Scholar
G.O.1 In vitro expression of small heat shock protein HSPB8 and HSPB1 mutations causing axonal neuropathy
J. Irobi, Ines Dierick, V. de Corte, J. Gettemans +5 more
20061 citations
Semantic Scholar
Unraveling the Genetics of Distal Hereditary Motor
J. Irobi, Ines Dierick, A. Jordanova, K. Claeys +2 more
20061 citations
Semantic Scholar
Editorial: Decoding cell fate: the critical roles of extracellular vesicles
Yongqiang Chen, Saeid Ghavami, P. Park, J. Irobi
2025Frontiers in Cell and Developmental Biology0 citations Open access
Semantic Scholar
A KNOCK-IN/KNOCK-OUT MOUSE MODEL FOR SMALL HEAT SHOCK PROTEIN HSPB8 MIMICKING DISTAL HEREDITARY MOTOR NEUROPATHY AND MYOFIBRILLAR MYOPATHY
D. Bouhy, Mansour Haidar, J. Irobi, V. de Winter +5 more
20170 citations
Semantic Scholar
EXPRESSION OF HSPB8_K141N MUTANT LEADS TO AXONOPATHY AND MOTOR DEFICITS IN A NEW TRANSGENIC MOUSE MODEL OF CMT2L
D. Bouhy, J. Irobi, V. Timmerman, J. Weis +2 more
20160 citations
Semantic Scholar
G.P.237
K. Peeters, I. Litvinenko, T. Chamova, B. Asselbergh +11 more
20140 citations
Semantic Scholar
FP54-FR-03 Distal hereditary motor neuropathy in a large Czech family: clinical and electrophysiological study
R. Mazanec, J. Haberlova, M. Rédlová, J. Irobi +2 more
20090 citations
Semantic Scholar
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24.
J. Irobi, V. Timmerman, P. de Jonghe, E. De Vriendt +2 more
1999Annals of the New York Academy of Sciences0 citations
Semantic Scholar
Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24
J. Irobi, V. Timmerman, P. Jonghe, E. Vriendt +2 more
1999Annals of the New York Academy of Sciences0 citations
Semantic Scholar

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