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Author/Creator van Gaalen, Judith

3. A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene. (November 2020)

Authors:
Mul, Karlien; Schouten, Meyke I.; van der Looij, Erica; Dooijes, Dennis; Hennekam, Frederic A.M.; Notermans, Nicolette C.; Praamstra, Peter; van Gaalen, Judith; Kamsteeg, Erik-Jan; Verbeek, Nienke E.; van de Warrenburg, Bart P.C.
Journal:
Parkinsonism & related disorders
Issue:
Volume 80(2020)
Page Start:
98
Record Type:
Journal Article
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5. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019)

Authors:
van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E.C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richa...
Journal:
Neurology
Issue:
Volume 92:Number 11(2019)
Page Start:
Record Type:
Journal Article
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6. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. (5th September 2017)

Authors:
Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, ...
Journal:
Neurology
Issue:
Volume 89:Number 10(2017)
Page Start:
Record Type:
Journal Article
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7. Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3. Issue 9 (8th July 2022)

Authors:
Maas, Roderick P.P.W.M.; Teerenstra, Steven; Lima, Manuela; Pires, Paula; Pereira de Almeida, Luís; van Gaalen, Judith; Timmann, Dagmar; Infante, Jon; Onyike, Chiadi; Bushara, Khalaf; Jacobi, Heike; Reetz, Kathrin; Santana, Magda M.; Afonso Ribeiro, Joana; Hübener‐Schmid, Jeannette; de Vries, Jer...
Journal:
Movement disorders
Issue:
Volume 37:Issue 9(2022)
Page Start:
1850
Record Type:
Journal Article
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8. Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3. Issue 11 (31st August 2022)

Authors:
Ilg, Winfried; Müller, Björn; Faber, Jennifer; van Gaalen, Judith; Hengel, Holger; Vogt, Ina R.; Hennes, Guido; van de Warrenburg, Bart; Klockgether, Thomas; Schöls, Ludger; Synofzik, Matthis
Journal:
Movement disorders
Issue:
Volume 37:Issue 11(2022)
Page Start:
2295
Record Type:
Journal Article
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9. Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. Issue 5 (28th February 2019)

Authors:
van Os, Nienke J H; Chessa, Luciana; Weemaes, Corry M R; van Deuren, Marcel; Fiévet, Alice; van Gaalen, Judith; Mahlaoui, Nizar; Roeleveld, Nel; Schrader, Christoph; Schindler, Detlev; Taylor, Alexander M R; Van de Warrenburg, Bart P C; Dörk, Thilo; Willemsen, Michèl A A P
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 5(2019)
Page Start:
308
Record Type:
Journal Article
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10. Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6. Issue 8 (23rd June 2020)

Authors:
Rietveld, Anke; van Gaalen, Judith; Saris, Christiaan; Okkersen, Kees; Küsters, Benno; van de Warrenburg, Bart; van Engelen, Baziel; Sacconi, Sabrina; Raaphorst, Joost
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 91:Issue 8(2020)
Page Start:
876
Record Type:
Journal Article
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