Search

Author/Creator Verheijen, Frans W.

1. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease). Issue 5 (11th March 2013)

Authors:
Sun, Yu; Almomani, Rowida; Breedveld, Guido J.; Santen, Gijs W.E.; Aten, Emmelien; Lefeber, Dirk J.; Hoff, Jorrit I.; Brusse, Esther; Verheijen, Frans W.; Verdijk, Rob M.; Kriek, Marjolein; Oostra, Ben; Breuning, Martijn H.; Losekoot, Monique; den, Johan T.; van de, Bart P.; Maat‐Kievit, Anneke J.A.
Journal:
Human mutation
Issue:
Volume 34:Issue 5(2013:May)
Page Start:
706
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy. (September 2019)

Authors:
Verhagen, Judith M.A.; van den Born, Myrthe; van der Linde, Herma C.; G.J. Nikkels, Peter; Verdijk, Rob M.; Kivlen, Maryann H.; van Unen, Leontine M.A.; Baas, Annette F.; ter Heide, Henriette; van Osch-Gevers, Lennie; Hoogeveen-Westerveld, Marianne; Herkert, Johanna C.; Bertoli-Avella, Aida M.; v...
Journal:
Circulation
Issue:
Volume 12:Number 9(2019)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. DNAJC6 mutations associated with early-onset Parkinson's disease. (January 2016)

Authors:
Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P.M.A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Mandemakers, Wim; Boon, Agnita J.W.; Kievit, Anneke J.A.; Jardim, Lau...
Journal:
Parkinsonism & related disorders
Issue:
Volume 22(2016)Supplement 2
Page Start:
e144
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease. Issue 2 (14th January 2016)

Authors:
Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P.M.A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Boon, Agnita J.W.; Kievit, Anneke J.A.; Jardim, Laura Bannach; Mandem...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 2(2016:Feb.)
Page Start:
244
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Human RAD50 deficiency: Confirmation of a distinctive phenotype. Issue 6 (25th March 2020)

Authors:
Ragamin, Aviël; Yigit, Gökhan; Bousset, Kristine; Beleggia, Filippo; Verheijen, Frans W.; de Wit, Marie‐Claire Y.; Strom, Tim M.; Dörk, Thilo; Wollnik, Bernd; Mancini, Grazia M. S.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 6(2020)
Page Start:
1378
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (25th May 2017)

Authors:
Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C.; Williams, Monique; de Coo, René F. M.; Duran, Marinus; Verheijen, Frans W.; van Slegtenhorst, Marjon; Mancini, Grazia M. S.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1601
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (June 2017)

Authors:
Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C.; Williams, Monique; de Coo, René F. M.; Duran, Marinus; Verheijen, Frans W.; van Slegtenhorst, Marjon; Mancini, Grazia M. S.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 6(2017)
Page Start:
1601
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. (November 2021)

Authors:
Mancini, Grazia M.S.; Smits, Daphne J.; Dekker, Jordy; Schot, Rachel; de Wit, Marie Claire Y.; Lequin, Maarten H.; Dremmen, Marjolein; Brooks, Alice S.; van Ham, Tjakko; Verheijen, Frans W.; Fornerod, Maarten; Dobyns, William B.; Wilke, Martina
Journal:
European journal of paediatric neurology
Issue:
Volume 35(2021)
Page Start:
27
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Issue 7 (19th April 2016)

Authors:
Olgiati, Simone; Skorvanek, Matej; Quadri, Marialuisa; Minneboo, Michelle; Graafland, Josja; Breedveld, Guido J.; Bonte, Ramon; Ozgur, Zeliha; van den Hout, Mirjam C.G.N.; Schoonderwoerd, Kees; Verheijen, Frans W.; van IJcken, Wilfred F.J.; Chien, Hsin Fen; Barbosa, Egberto Reis; Chang, Hsiu‐Chen...
Journal:
Movement disorders
Issue:
Volume 31:Issue 7(2016)
Page Start:
1041
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?2. Issue 9 (19th May 2014)

Authors:
Poulton, Cathryn J.; Schot, Rachel; Seufert, Katja; Lequin, Maarten H.; Accogli, Andrea; Annunzio, Giuseppe D'; Villard, Laurent; Philip, Nicole; de Coo, René; Catsman‐Berrevoets, Coriene; Grasshoff, Ute; Kattentidt‐Mouravieva, Anja; Calf, Hans; de Vreugt‐Gronloh, Erika; van Unen, Leontine; Verhe...
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 9(2014.)
Page Start:
2161
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗