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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Neurology. Genetics

Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A.
PMID: 27066548
Neurol Genet. 2015 Jun 18;1(1):e9. doi: 10.1212/NXG.0000000000000009. eCollection 2015 Jun.

Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.(1) Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.(2) reported that mutations in RAB39B cause X-linked...

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Lesage S, Bras J, Cormier-Dequaire F, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015;1(1):e9doi: 10.1212/NXG.0000000000000009.
Lesage, S., Bras, J., Cormier-Dequaire, F., Condroyer, C., Nicolas, A., Darwent, L., Guerreiro, R., Majounie, E., Federoff, M., Heutink, P., Wood, N. W., Gasser, T., Hardy, J., Tison, F., Singleton, A., Brice, A. (2015). Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurology. Genetics, 1(1), e9. https://doi.org/10.1212/NXG.0000000000000009
Lesage, Suzanne, et al. "Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease." Neurology. Genetics vol. 1,1 (2015): e9. doi: https://doi.org/10.1212/NXG.0000000000000009
Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, Brice A. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015 Jun 18;1(1):e9. doi: 10.1212/NXG.0000000000000009. eCollection 2015 Jun. PMID: 27066548; PMCID: PMC4821081.
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[A mathematical model, not a teaching plan model].

TVZ : het vakblad voor de verpleging

Heitink J.
PMID: 8333911
TVZ. 1993 Jun 10;(11):362.

No abstract available.

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Heitink J. Een rekenmodel, geen leerplanmodel. [A mathematical model, not a teaching plan model]. TVZ. 1993;(11):362
Heitink, J. (1993). Een rekenmodel, geen leerplanmodel. [A mathematical model, not a teaching plan model]. TVZ : het vakblad voor de verpleging, (11), 362.
Heitink, J. "Een rekenmodel, geen leerplanmodel." [A mathematical model, not a teaching plan model]. TVZ : het vakblad voor de verpleging vol. ,11 (1993): 362.
Heitink J. Een rekenmodel, geen leerplanmodel. [A mathematical model, not a teaching plan model]. TVZ. 1993 Jun 10;(11):362. Dutch. PMID: 8333911.
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Development of Soft sEMG Sensing Structures Using 3D-Printing Technologies.

Sensors (Basel, Switzerland)

Wolterink G, Dias P, Sanders RGP, Muijzer F, van Beijnum BJ, Veltink P, Krijnen G.
PMID: 32752062
Sensors (Basel). 2020 Jul 31;20(15). doi: 10.3390/s20154292.

3D printing of soft EMG sensing structures enables the creation of personalized sensing structures that can be potentially integrated in prosthetic, assistive and other devices. We developed and characterized flexible carbon-black doped TPU-based sEMG sensing structures. The structures are...

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Wolterink G, Dias P, Sanders RGP, et al. Development of Soft sEMG Sensing Structures Using 3D-Printing Technologies. Sensors (Basel). 2020;20(15)doi: 10.3390/s20154292.
Wolterink, G., Dias, P., Sanders, R. G. P., Muijzer, F., van Beijnum, B. J., Veltink, P., & Krijnen, G. (2020). Development of Soft sEMG Sensing Structures Using 3D-Printing Technologies. Sensors (Basel, Switzerland), 20(15), . https://doi.org/10.3390/s20154292
Wolterink, Gerjan, et al. "Development of Soft sEMG Sensing Structures Using 3D-Printing Technologies." Sensors (Basel, Switzerland) vol. 20,15 (2020). doi: https://doi.org/10.3390/s20154292
Wolterink G, Dias P, Sanders RGP, Muijzer F, van Beijnum BJ, Veltink P, Krijnen G. Development of Soft sEMG Sensing Structures Using 3D-Printing Technologies. Sensors (Basel). 2020 Jul 31;20(15). doi: 10.3390/s20154292. PMID: 32752062; PMCID: PMC7435423.
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Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines.

Journal of neuromuscular diseases

Heutinck L, van Gameren M, Verschuuren JJGM, Geurts ACH, Jansen M, de Groot IJM.
PMID: 33814457
J Neuromuscul Dis. 2021;8(4):503-512. doi: 10.3233/JND-200586.

BACKGROUND: In order to successfully implement the international clinical care guidelines for Duchenne muscular dystrophy (DMD) in the Netherlands, it is essential to know what barriers are experienced by healthcare practitioners regarding guideline adherence and organization of care. In...

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Heutinck L, van Gameren M, Verschuuren JJGM, et al. Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines. J Neuromuscul Dis. 2021;8(4):503-512doi: 10.3233/JND-200586.
Heutinck, L., van Gameren, M., Verschuuren, J. J. G. M., Geurts, A. C. H., Jansen, M., & de Groot, I. J. M. (2021). Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines. Journal of neuromuscular diseases, 8(4), 503-512. https://doi.org/10.3233/JND-200586
Heutinck, Lotte, et al. "Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines." Journal of neuromuscular diseases vol. 8,4 (2021): 503-512. doi: https://doi.org/10.3233/JND-200586
Heutinck L, van Gameren M, Verschuuren JJGM, Geurts ACH, Jansen M, de Groot IJM. Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines. J Neuromuscul Dis. 2021;8(4):503-512. doi: 10.3233/JND-200586. PMID: 33814457; PMCID: PMC8461703.
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Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation.

Muscle & nerve

Houwen-van Opstal SLS, Heutinck L, Jansen M, Krom YD, Cup EHC, Hendriksen JGM, Willemsen MAAP, Verschuuren JJGM, Niks EH, de Groot IJM.
PMID: 34453345
Muscle Nerve. 2021 Dec;64(6):701-709. doi: 10.1002/mus.27406. Epub 2021 Sep 09.

INTRODUCTION/AIMS: As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages...

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Houwen-van Opstal SLS, Heutinck L, Jansen M, et al. Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation. Muscle Nerve. 2021;64(6):701-709doi: 10.1002/mus.27406.
Houwen-van Opstal, S. L. S., Heutinck, L., Jansen, M., Krom, Y. D., Cup, E. H. C., Hendriksen, J. G. M., Willemsen, M. A. A. P., Verschuuren, J. J. G. M., Niks, E. H., & de Groot, I. J. M. (2021). Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation. Muscle & nerve, 64(6), 701-709. https://doi.org/10.1002/mus.27406
Houwen-van Opstal, Saskia L S, et al. "Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation." Muscle & nerve vol. 64,6 (2021): 701-709. doi: https://doi.org/10.1002/mus.27406
Houwen-van Opstal SLS, Heutinck L, Jansen M, Krom YD, Cup EHC, Hendriksen JGM, Willemsen MAAP, Verschuuren JJGM, Niks EH, de Groot IJM. Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation. Muscle Nerve. 2021 Dec;64(6):701-709. doi: 10.1002/mus.27406. Epub 2021 Sep 09. PMID: 34453345.
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Eculizumab, a real-life successful treatment for refractory cold agglutinin-mediated auto-immune hemolytic anemia secondary to lymphoproliferative disorders.

Annals of hematology

Herbreteau L, Le Calloch R, Arnaud B, Cassou N, Rizcallah MJ, Hutin P, Le Clech L.
PMID: 34003325
Ann Hematol. 2021 Aug;100(8):2105-2106. doi: 10.1007/s00277-021-04557-1. Epub 2021 May 18.

No abstract available.

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Herbreteau L, Le Calloch R, Arnaud B, et al. Eculizumab, a real-life successful treatment for refractory cold agglutinin-mediated auto-immune hemolytic anemia secondary to lymphoproliferative disorders. Ann Hematol. 2021;100(8):2105-2106doi: 10.1007/s00277-021-04557-1.
Herbreteau, L., Le Calloch, R., Arnaud, B., Cassou, N., Rizcallah, M. J., Hutin, P., & Le Clech, L. (2021). Eculizumab, a real-life successful treatment for refractory cold agglutinin-mediated auto-immune hemolytic anemia secondary to lymphoproliferative disorders. Annals of hematology, 100(8), 2105-2106. https://doi.org/10.1007/s00277-021-04557-1
Herbreteau, Laura, et al. "Eculizumab, a real-life successful treatment for refractory cold agglutinin-mediated auto-immune hemolytic anemia secondary to lymphoproliferative disorders." Annals of hematology vol. 100,8 (2021): 2105-2106. doi: https://doi.org/10.1007/s00277-021-04557-1
Herbreteau L, Le Calloch R, Arnaud B, Cassou N, Rizcallah MJ, Hutin P, Le Clech L. Eculizumab, a real-life successful treatment for refractory cold agglutinin-mediated auto-immune hemolytic anemia secondary to lymphoproliferative disorders. Ann Hematol. 2021 Aug;100(8):2105-2106. doi: 10.1007/s00277-021-04557-1. Epub 2021 May 18. PMID: 34003325.
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Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS.

Multiple sclerosis and related disorders

van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J.
PMID: 34863058
Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24.

BACKGROUND: Visual disturbances are common in multiple sclerosis (MS), but visual complaints may be underestimated. While these complaints decrease quality of life, they may not be discussed during clinic visits. People with MS (pwMS) may not be referred to...

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van der Feen FE, de Haan GA, van der Lijn I, et al. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021;57:103429doi: 10.1016/j.msard.2021.103429.
van der Feen, F. E., de Haan, G. A., van der Lijn, I., Huizinga, F., Meilof, J. F., Heersema, D. J., & Heutink, J. (2021). Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Multiple sclerosis and related disorders, 57103429. https://doi.org/10.1016/j.msard.2021.103429
van der Feen, F E, et al. "Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS." Multiple sclerosis and related disorders vol. 57 (2021): 103429. doi: https://doi.org/10.1016/j.msard.2021.103429
van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24. PMID: 34863058.
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Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS.

Multiple sclerosis and related disorders

van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J.
PMID: 34863058
Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24.

BACKGROUND: Visual disturbances are common in multiple sclerosis (MS), but visual complaints may be underestimated. While these complaints decrease quality of life, they may not be discussed during clinic visits. People with MS (pwMS) may not be referred to...

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van der Feen FE, de Haan GA, van der Lijn I, et al. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021;57:103429doi: 10.1016/j.msard.2021.103429.
van der Feen, F. E., de Haan, G. A., van der Lijn, I., Huizinga, F., Meilof, J. F., Heersema, D. J., & Heutink, J. (2021). Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Multiple sclerosis and related disorders, 57103429. https://doi.org/10.1016/j.msard.2021.103429
van der Feen, F E, et al. "Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS." Multiple sclerosis and related disorders vol. 57 (2021): 103429. doi: https://doi.org/10.1016/j.msard.2021.103429
van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24. PMID: 34863058.
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Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review.

Journal of Parkinson's disease

van der Lijn I, de Haan GA, Huizinga F, van der Feen FE, F Rutgers AW, Stellingwerf C, van Laar T, Heutink J.
PMID: 35001897
J Parkinsons Dis. 2022 Jan 04; doi: 10.3233/JPD-202324. Epub 2022 Jan 04.

BACKGROUND: Scientific research increasingly focuses on visual symptoms of people with Parkinson's disease (PD). However, this mostly involves functional measures, whereas self-reported data are equally important for guiding clinical care.OBJECTIVE: This review sprovides an overview of the nature and...

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van der Lijn I, de Haan GA, Huizinga F, et al. Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review. J Parkinsons Dis. 2022;doi: 10.3233/JPD-202324.
van der Lijn, I., de Haan, G. A., Huizinga, F., van der Feen, F. E., F Rutgers, A. W., Stellingwerf, C., van Laar, T., & Heutink, J. (2022). Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review. Journal of Parkinson's disease, . https://doi.org/10.3233/JPD-202324
van der Lijn, Iris, et al. "Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review." Journal of Parkinson's disease vol. (2022). doi: https://doi.org/10.3233/JPD-202324
van der Lijn I, de Haan GA, Huizinga F, van der Feen FE, F Rutgers AW, Stellingwerf C, van Laar T, Heutink J. Self-Reported Visual Complaints in People with Parkinson's Disease: A Systematic Review. J Parkinsons Dis. 2022 Jan 04; doi: 10.3233/JPD-202324. Epub 2022 Jan 04. PMID: 35001897.
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Correction: The Effects of Compensatory Scanning Training on Mobility in Patients with Homonymous Visual Field Defects: A Randomized Controlled Trial.

PloS one

de Haan GA, Melis-Dankers BJ, Brouwer WH, Tucha O, Heutink J.
PMID: 27788273
PLoS One. 2016 Oct 27;11(10):e0165863. doi: 10.1371/journal.pone.0165863. eCollection 2016.

[This corrects the article DOI: 10.1371/journal.pone.0134459.].

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de Haan GA, Melis-Dankers BJ, Brouwer WH, et al. Correction: The Effects of Compensatory Scanning Training on Mobility in Patients with Homonymous Visual Field Defects: A Randomized Controlled Trial. PLoS One. 2016;11(10):e0165863doi: 10.1371/journal.pone.0165863.
de Haan, G. A., Melis-Dankers, B. J., Brouwer, W. H., Tucha, O., & Heutink, J. (2016). Correction: The Effects of Compensatory Scanning Training on Mobility in Patients with Homonymous Visual Field Defects: A Randomized Controlled Trial. PloS one, 11(10), e0165863. https://doi.org/10.1371/journal.pone.0165863
de Haan, Gera A, et al. "Correction: The Effects of Compensatory Scanning Training on Mobility in Patients with Homonymous Visual Field Defects: A Randomized Controlled Trial." PloS one vol. 11,10 (2016): e0165863. doi: https://doi.org/10.1371/journal.pone.0165863
de Haan GA, Melis-Dankers BJ, Brouwer WH, Tucha O, Heutink J. Correction: The Effects of Compensatory Scanning Training on Mobility in Patients with Homonymous Visual Field Defects: A Randomized Controlled Trial. PLoS One. 2016 Oct 27;11(10):e0165863. doi: 10.1371/journal.pone.0165863. eCollection 2016. PMID: 27788273; PMCID: PMC5082912.
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Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS.

Multiple sclerosis and related disorders

van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J.
PMID: 34863058
Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24.

BACKGROUND: Visual disturbances are common in multiple sclerosis (MS), but visual complaints may be underestimated. While these complaints decrease quality of life, they may not be discussed during clinic visits. People with MS (pwMS) may not be referred to...

Cite
van der Feen FE, de Haan GA, van der Lijn I, et al. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021;57:103429doi: 10.1016/j.msard.2021.103429.
van der Feen, F. E., de Haan, G. A., van der Lijn, I., Huizinga, F., Meilof, J. F., Heersema, D. J., & Heutink, J. (2021). Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Multiple sclerosis and related disorders, 57103429. https://doi.org/10.1016/j.msard.2021.103429
van der Feen, F E, et al. "Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS." Multiple sclerosis and related disorders vol. 57 (2021): 103429. doi: https://doi.org/10.1016/j.msard.2021.103429
van der Feen FE, de Haan GA, van der Lijn I, Huizinga F, Meilof JF, Heersema DJ, Heutink J. Recognizing visual complaints in people with multiple sclerosis: Prevalence, nature and associations with key characteristics of MS. Mult Scler Relat Disord. 2021 Nov 24;57:103429. doi: 10.1016/j.msard.2021.103429. Epub 2021 Nov 24. PMID: 34863058.
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PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

Tremor and other hyperkinetic movements (New York, N.Y.)

Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J.
PMID: 27127721
Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016.

BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism.METHODS: A consanguineous index case from Turkey was diagnosed with early-onset Parkinsonism at the...

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Giri A, Guven G, Hanagasi H, et al. PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. Tremor Other Hyperkinet Mov (N Y). 2016;6:363doi: 10.7916/D81G0M12.
Giri, A., Guven, G., Hanagasi, H., Hauser, A. K., Erginul-Unaltuna, N., Bilgic, B., Gurvit, H., Heutink, P., Gasser, T., Lohmann, E., & Simón-Sánchez, J. (2016). PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. Tremor and other hyperkinetic movements (New York, N.Y.), 6363. https://doi.org/10.7916/D81G0M12
Giri, Anamika, et al. "PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism." Tremor and other hyperkinetic movements (New York, N.Y.) vol. 6 (2016): 363. doi: https://doi.org/10.7916/D81G0M12
Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J. PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016. PMID: 27127721; PMCID: PMC4811020.
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