Peter De Jonghe
Universiteit Antwerpen
H-index: 108
Europe-Belgium
Top articles of Peter De Jonghe
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort | Brain Pathology | Juliane Bremer Axel Meinhardt Istvan Katona Jan Senderek Elke K Kämmerer‐Gassler | 2024/1 |
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis | Scientific reports | Sabrina Ehnert Stefan Hauser Holger Hengel Philip Höflinger Rebecca Schüle | 2024/3/27 |
BRAIN COMMUNICATIONS | Hanna Leister Felix F Krause Beatriz Gil Ruslan Prus Inna Prus | 2024 | |
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases | Brain communications | Danique Beijer Sheila Marte Jiaxin C Li Willem De Ridder Jessie Z Chen | 2024 |
P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study | Neuromuscular Disorders | M Schiava I Nishino M Inoue Y Nishimori Y Saito | 2023/10/1 |
Responsiveness of the scale for the assessment and rating of ataxia and natural history in 884 recessive and early onset ataxia patients | Annals of Neurology | Andreas Traschütz Astrid D Adarmes‐Gómez Mathieu Anheim Jonathan Baets Bernard Brais | 2023/9 |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Human Genetics and Genomics Advances | Adam Jackson Sheng-Jia Lin Elizabeth A Jones Kate E Chandler David Orr | 2023/4/13 |
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Genetics in Medicine | Anne-Sophie Denommé-Pichon Leslie Matalonga Elke de Boer Adam Jackson Elisa Benetti | 2023/4/1 |
P. 88 Long-term follow-up of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) | Neuromuscular Disorders | L Baisier F Daems P De Jonghe J Baets A Alonso-Jiménez | 2022/10/1 |
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia | European journal of neurology | Danique Beijer Maike F Dohrn Jonathan De Winter Sarah Fazal Andrea Cortese | 2022/7 |
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia | Movement disorders | Liedewei Van de Vondel Jonathan De Winter Danique Beijer Giulia Coarelli Melanie Wayand | 2022/6 |
Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29. 010) | Danique Beijer Maike Dohrn Jonathan De Winter Sarah Fazal Andrea Cortese | 2022/5/3 | |
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies | Brain | Sathiya N Manivannan Jolien Roovers Noor Smal Candace T Myers Dilsad Turkdogan | 2022/5/1 |
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias | Networks in Movement Disorders | Antonio Pisani Alessandro Filla Joanne Trinh Carlo Alberto Artusi Matthis Synofzik | 2021/11/30 |
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases | European journal of human genetics | Birte Zurek Kornelia Ellwanger Lisenka ELM Vissers Rebecca Schüle Matthis Synofzik | 2021/9 |
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia | Brain | Manuela Wiessner Reza Maroofian Meng-Yuan Ni Andrea Pedroni Juliane S Müller | 2021/5 |
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response | Life Science Alliance | Danique Beijer Thomas Agnew Johannes Gregor Matthias Rack Evgeniia Prokhorova Tine Deconinck | 2021/11/1 |
DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM | medRxiv | D Beijer HJ Kim L Guo K O’Donovan I Mademan | 2021/2/3 |
Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis | Neurobiology of Disease | Julie van der Zee Lubina Dillen Yalda Baradaran-Heravi Helena Gossye Cemile Koçoğlu | 2021/8/1 |
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients | Neuromuscular Disorders | Willem De Ridder Peter De Jonghe Volker Straub Jonathan Baets | 2021/11/1 |
