Peter De Jonghe

Peter De Jonghe's AcademicInfluence.com Rankings

Peter De Jonghe

Biology

#14764

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#18606

Historical Rank

Genetics

#1694

World Rank

#1804

Historical Rank

Neuroscience

#2618

World Rank

#2688

Historical Rank

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Biology

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Peter De Jonghe's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Analysis of shared heritability in common disorders of the brain (2016) (1385)
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (2001) (1076)
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (2004) (793)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. (2010) (431)
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (2003) (428)
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. (2006) (366)
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 (2006) (339)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders (2017) (339)
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 (2008) (315)
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (2003) (284)
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement (2004) (278)
novoSNP, a novel computational tool for sequence variation discovery. (2005) (276)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 (2009) (249)
A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome (2009) (249)
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (1999) (230)
The genetics of Dravet syndrome (2011) (227)
A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome (2009) (224)
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome (2014) (216)
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (2015) (211)
Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E (2001) (196)
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy (2003) (195)
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter (2015) (194)
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. (2013) (192)
GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy (2014) (187)
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. (2003) (186)
De novo variants in neurodevelopmental disorders with epilepsy (2017) (186)
De novo mutations in HCN1 cause early infantile epileptic encephalopathy (2014) (182)
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. (1998) (178)
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (2011) (174)
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. (2010) (171)
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. (2008) (170)
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes (2014) (170)
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. (2010) (164)
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation (2009) (162)
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations (2010) (161)
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy (2003) (161)
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. (2010) (152)
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. (2013) (149)
Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype (1999) (149)
A novel GABRG2 mutation associated with febrile seizures (2006) (147)
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort (2015) (146)
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency (2010) (145)
Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation (2008) (145)
Extending the KCNQ2 encephalopathy spectrum (2013) (143)
STXBP1 encephalopathy (2016) (143)
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. (2012) (141)
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. (1992) (140)
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (2012) (134)
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. (2007) (134)
Transcriptional regulator PRDM12 is essential for human pain perception (2015) (132)
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. (2003) (130)
Defective membrane expression of the Na+-HCO3− cotransporter NBCe1 is associated with familial migraine (2010) (129)
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. (1993) (127)
Microdeletions involving the SCN1A gene may be common in SCN1A‐mutation‐negative SMEI patients (2006) (125)
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. (2011) (123)
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. (2010) (121)
Mutations in GDAP1 (2002) (121)
The SCN1A variant database: a novel research and diagnostic tool (2009) (119)
Periaxin mutations cause a broad spectrum of demyelinating neuropathies (2002) (118)
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. (2011) (117)
Charcot-Marie-Tooth disease and related peripheral neuropathies. (1997) (117)
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. (2003) (117)
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (2007) (116)
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy (2014) (115)
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect (2011) (114)
De novo SCN1A mutations in migrating partial seizures of infancy (2011) (111)
Genetic spectrum of hereditary neuropathies with onset in the first year of life (2011) (104)
Mutations in SACS cause atypical and late-onset forms of ARSACS (2010) (103)
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. (2004) (100)
Delineating the GRIN1 phenotypic spectrum (2016) (97)
Epilepsy as part of the phenotype associated with ATP1A2 mutations (2008) (94)
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (2014) (93)
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies (2015) (89)
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. (2009) (87)
Mutant HSPB8 causes motor neuron-specific neurite degeneration (2010) (86)
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. (2013) (86)
Molecular genetics of distal hereditary motor neuropathies. (2004) (86)
Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13 (1996) (85)
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2017) (85)
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. (2015) (81)
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. (2015) (80)
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. (2016) (80)
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I). (1989) (79)
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort (2015) (78)
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes (2011) (78)
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder? (2002) (77)
Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. (2003) (76)
Treatment for Charcot-Marie-Tooth disease. (2008) (73)
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial (2017) (72)
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. (2014) (72)
Clinicopathological and genetic study of early-onset demyelinating neuropathy. (2004) (72)
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia (2017) (72)
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. (2001) (71)
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (1996) (71)
EFNS guidelines on the molecular diagnosis of mitochondrial disorders (2009) (70)
Molecular consequences of dominant Bethlem myopathy collagen VI mutations (2007) (69)
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients (2016) (69)
Phenotypic spectrum of GABRA1 (2016) (69)
Pitfalls in genetic testing: the story of missed SCN1A mutations (2016) (69)
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases (2017) (68)
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy (2017) (68)
Hereditary recurrent focal neuropathies (2000) (68)
Genetics of epilepsy syndromes starting in the first year of life (2009) (68)
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. (2003) (67)
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. (2015) (67)
Recent advances in hereditary sensory and autonomic neuropathies (2006) (66)
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. (1997) (64)
Familial occipitotemporal lobe epilepsy and migraine with visual aura (2007) (64)
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. (2019) (64)
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve (2004) (63)
Recent advances in Charcot-Marie-Tooth disease. (2014) (63)
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. (2007) (63)
Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures (2004) (60)
Phenotype of Charcot–Marie–Tooth disease Type 2 (2007) (59)
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy (2002) (59)
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. (1994) (59)
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion (2017) (58)
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. (2003) (58)
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. (2018) (56)
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias (2009) (56)
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. (1997) (56)
Genes and loci involved in febrile seizures and related epilepsy syndromes (2006) (55)
Small heat shock proteins in inherited peripheral neuropathies (2005) (55)
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H (2009) (55)
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency (2011) (54)
De novo KCNQ2 mutations in patients with benign neonatal seizures (2004) (54)
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. (2007) (53)
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. (2016) (52)
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations (2017) (51)
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias (2010) (51)
STXBP1 promotes Weibel-Palade body exocytosis through its interaction with the Rab27A effector Slp4-a. (2014) (50)
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders (2011) (48)
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. (1990) (48)
Phenotype–genotype correlations in a CMT2B family with refined 3q13-q22 locus (2000) (47)
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. (2015) (47)
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene (2010) (47)
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges (2014) (47)
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (2007) (46)
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease. (2015) (44)
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3 (2004) (44)
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I (2004) (44)
Mutation analysis of the connexin 32 (Cx32) gene in charcot‐marie‐tooth neuropathy type 1: Identification of five new mutations (1997) (43)
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. (2019) (42)
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions (2016) (42)
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy (2015) (42)
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy (2006) (42)
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci (2000) (41)
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (41)
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies (2014) (40)
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus (2005) (39)
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy (2013) (39)
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response (2007) (38)
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field (1999) (37)
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C (2009) (36)
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. (2016) (36)
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 (2019) (35)
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) (2016) (34)
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II (2006) (34)
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (33)
Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients (2020) (33)
Loss of synaptic Zn2+ transporter function increases risk of febrile seizures (2015) (33)
Mild adolescent/adult onset epilepsy and paroxysmal exercise‐induced dyskinesia due to GLUT1 deficiency (2010) (32)
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. (1994) (31)
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene. (2010) (31)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
PRRT2 mutations: exploring the phenotypical boundaries (2013) (29)
Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy (2001) (29)
A novel AARS mutation in a family with dominant myeloneuropathy (2015) (29)
Hereditary neuralgic amyotrophy (2001) (28)
STXBP1 as a therapeutic target for epileptic encephalopathy (2017) (28)
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous (2001) (28)
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function (2018) (26)
Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy (2018) (26)
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. (2019) (26)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2020) (26)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders (2017) (25)
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases (2000) (24)
Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28 (2014) (24)
Molecular genetics of Dravet syndrome (2011) (24)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. (2012) (22)
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation (2021) (21)
Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias (2017) (21)
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias (2010) (21)
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy (2015) (21)
Charcot–Marie–Tooth disease with giant axons (2003) (21)
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A (2017) (20)
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES (2019) (20)
Duplications of 17q12 can cause familial fever-related epilepsy syndromes (2013) (19)
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene (2004) (19)
Limb girdle muscular dystrophy due to mutations in POMT2 (2017) (18)
Cerebral manifestations of Whipple's disease. (1979) (18)
PMP22 Thr118Met is not a clinically relevant CMT1 marker (2000) (17)
Investigating the genetic basis of fever‐associated syndromic epilepsies using copy number variation analysis (2015) (17)
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia (2018) (16)
Morphological spectrum and clinical features of myopathies with tubular aggregates. (2013) (15)
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies (2018) (15)
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy (2017) (15)
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy (2017) (14)
The therapeutic potential of RNA regulation in neurological disorders (2018) (14)
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. (1999) (14)
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients (2018) (13)
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (2000) (13)
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy. (2001) (13)
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy (2010) (13)
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. (1998) (13)
Opinion of Belgian neurologists on antiepileptic drug treatment in 2006: Belgian study on epilepsy treatment (BESET‐2) (2009) (12)
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation (2019) (12)
Schizophrenia-Associated MIR204 Regulates Noncoding RNAs and Affects Neurotransmitter and Ion Channel Gene Sets (2015) (12)
Absence of genetic linkage of Charcot‐Marie‐Tooth disease (HMSN Ia) with chromosome 1 gene markers (1989) (12)
Hereditary motor-sensory, motor, and sensory neuropathies in childhood. (2013) (12)
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation (2020) (11)
The genetic landscape of axonal neuropathies in the middle-aged and elderly (2020) (11)
Valproate-Induced Hyperammonemic Encephalopathy: Imaging Findings on Diffusion-Weighted MRI (2004) (11)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (10)
Whole-body MR screening of muscles in the evaluation of neuromuscular diseases (2004) (10)
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies (2002) (10)
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia (2006) (9)
TRPV4 neuropathies (2011) (9)
INTERMITTENT POSITIVE AIRWAY PRESSURE BY NASAL MASK AS A TREATMENT FOR RESPIRATORY INSUFFICIENCY IN A PATIENT WITH CHARCOT-MARIE-TOOTH DISEASE (2006) (9)
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA) (2001) (9)
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease (2018) (8)
Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. (2016) (8)
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population (2018) (7)
Promising riboflavin treatment for motor neuron disorder. (2014) (7)
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias (2021) (7)
De novo variants in neurodevelopmental disorders with epilepsy (2018) (6)
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022) (6)
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies (2001) (5)
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3 (2002) (5)
Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results. (1999) (5)
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation (1999) (5)
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia (2022) (5)
Isolation from rat urine and human liver microsomes and identification by electrospray and nanospray tandem mass spectrometry of new malagashanine metabolites. (2000) (5)
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics. (1999) (5)
Molecular genetics of inherited peripheral neuropathies: who are the actors? (2000) (5)
[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families]. (2002) (4)
Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response (2021) (4)
Andermann Syndrome in a Turkish Patient (2003) (4)
Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
Using common genetic variants to find drugs for common epilepsies (2021) (3)
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (2001) (3)
Increased axonal ribosome numbers in CMT diseases (2011) (3)
Cerebral cysticercosis. Light- and electron microscopy report on one case. (1980) (3)
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease. (2001) (2)
Exclusion analysis of Charcot-Marie-Tooth neuropathy (CMT1) with chromosome 1p markers. (1989) (1)
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]. (2008) (1)
Report of the 8th annual symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999. (1999) (1)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception (2015) (1)
DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM (2021) (1)
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (0)
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish (2019) (0)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (0)
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders (2013) (0)
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function (2018) (0)
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
Author's Reply: Familial Phenotype in Migraine and Epilepsy (2008) (0)
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy (2021) (0)
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24. (1999) (0)
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
Reply (2010) (0)
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach (2014) (0)

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