Peter De Jonghe
机构: VIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute Born
主页: vib.be
每年引用次数
引用次数
引用: 43,002
H-指数: 108
I10-指数 : 327
出版物: 628
Report of the 8th annual symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999.
De Jonghe P , Van Broeckhoven C , Timmerman
Journal of The Peripheral Nervous System 4 279 -304
1
1999
Cerebral manifestations of Whipple's disease.
Ceuterick C , De Jonghe P , Budka H , Martin Jj
Acta Neurologica Belgica 79 ( 4) 305
16
1979
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Thooth phenotype
De Jonghe P , Timmerman V , Ceuterick C , Nelis E
Brain 122 281 -290
1999
Extending the Spectrum of KCNQ2 Encephalopathy: Description of 11 Additional Patients
S Gronborg , T Pisano , S Heavin , S Weckhuysen
30th International Epilepsy Congress
2013
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
J. Irobi , C. Van Broeckhoven , V. Timmerman , K. Venken
Annals of Human Genetics 65 ( 6) 517 -529
2
2001
Molecular genetics of inherited peripheral neuropathies: who are the actors?
V. Timmerman , J. Meuleman , E. Nelis , P. De Jonghe
Acta Neurologica Belgica 100 ( 3) 171 -180
5
2000
Neuropathies héréditaires sensibles à la pression: étude de six familles espagnoles.
A. Pou Serradell , J. Monells , V. Timmerman , J. Meuleman
Revue Neurologique 158 ( 5) 579 -588
3
2002
STATUS REPORT OF THE BELGIAN STUDIES PROGRAMME ON THE MOVEMENT OF RADIOELEMENTS IN SOILS
P. De Jonghe , P. Staner , W. Maes , L. Baetsle
Colloq. Intern. Retention Migration Ions Radioactifs Sols, Saclay, 1962
1
1963
LINEAR SCLERODERMA OR PARRY-ROMBERG SYNDROME: A RARE CAUSE OF EPILEPSY WITH STILL UNKOWN ETHIOLOGY
A. Suls , W. Van Paesschen , S. Weckhuysen , J. Lambert
Epilepsia 52 87 -87
2011
Inherited peripheral neuropathies
J. Baets , C. Hanemann , P. De Jonghe
Encyclopedia of molecular mechanisms of diseases / Lang, Florian [edit.] 1461 -1467
2009
Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies
J. Irobi , V. Timmerman , H. Topaloglu , E. De Vriendt
Acta mycologica. - Warszawa 20 ( 1) 39 -42
4
2001
Biomarkers in Charcot-Marie-tooth disease 1a
B. Schlotter-Weigel , R. Fledrich , D. Pareyson , T. J. Schnizer
Journal of The Peripheral Nervous System
2016
TBK1 loss-of function and dominant-negative mutations in an extended European cohort of FTD and ALS patients
K. Sleegers , C. Van Broeckhoven , R. Perneczky , A. Danek
Journal of Neurochemistry 138 304 -304
2016
Report of the 7th Annual Symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 3-5, 1998
C. Van Broeckhoven , V. Timmerman , P. De Jonghe
Journal of The Peripheral Nervous System 3 ( 4) 283 -285
1
1998
KCNQ2 MUTATIONS ARE A CAUSE OF NEONATALEPILEPTIC ENCEPHALOPATHIES WITH ARECOGNIZABLE CLINICAL AND RADIOLOGICALPHENOTYPE
Samuel Berkovic , L. Lagae , Arvid Suls , D. Hasaerts
Epilepsia 52 17 -17
2011
Investigating the role of rare heterozygous CHCHD10 variants in a Belgian cohort of FTD and ALS patients
C. Van Broeckhoven , P. Cras , S. Engelborghs , P. Santens
Journal of Neurochemistry 138 306 -306
2016
Molecular mechanism of genetic anticipation in C9orf72 repeat expansion families
C. Van Broeckhoven , M. Mattheijssens , B. Heeman , M. Cruts
Journal of Neurochemistry 138 312 -312
2016
Another large family with infantile convulsions and choreo-athetosis (ICCA) with linkage to chromosome 16p12-q12
L. Lagae , Arvid Suls , S. Weckhuysen , P. De Jonghe
Epilepsia 51 ( 51) 142 -142
2010
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
C. Ceuterick-de Groote , P. De Jonghe , P. De Jonghe , V. Timmerman
Pathology Research and Practice 197 ( 3) 193 -198
13
2001
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
G. L. Carvill , S. Weckhuysen , J. M. McMahon , C. Hartmann
Neurology 82 ( 14) 1245 -1253
159
2014