Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Cacha M P C D Peeters-Scholte; Phebe N Adama van Scheltema; Frans J C M Klumper; Sheila M P Everwijn; Marije Koopmans; Mariette J V Hoffer; Tamara T Koopmann; Claudia A L Ruivenkamp; Sylke J Steggerda; Marjo S van der Knaap; Gijs W E Santen

doi:10.1093/brain/awx239

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Cacha M P C D Peeters-Scholte, Phebe N Adama van Scheltema, Frans J C M Klumper, Sheila M P Everwijn, Marije Koopmans, Mariette J V Hoffer, Tamara T Koopmann, Claudia A L Ruivenkamp, Sylke J Steggerda, Marjo S van der Knaap, Gijs W E Santen

Research output: Contribution to journal › Letter › Academic › peer-review

Original language	English
Pages (from-to)	e66
Journal	Brain : a journal of neurology
Volume	140
Issue number	11
DOIs	https://doi.org/10.1093/brain/awx239
Publication status	Published - 1 Nov 2017
Externally published	Yes

Keywords

ATPases Associated with Diverse Cellular Activities
Cerebellar Diseases
Cholesterol
DNA, Mitochondrial
Genetic Association Studies
Humans
Membrane Proteins/genetics
Mitochondrial Proteins
Multigene Family

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10.1093/brain/awx239

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Peeters-Scholte, C. M. P. C. D., Adama van Scheltema, P. N., Klumper, F. J. C. M., Everwijn, S. M. P., Koopmans, M., Hoffer, M. J. V., Koopmann, T. T., Ruivenkamp, C. A. L., Steggerda, S. J., van der Knaap, M. S., & Santen, G. W. E. (2017). Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. Brain : a journal of neurology, 140(11), e66. https://doi.org/10.1093/brain/awx239

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title = "Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance",

keywords = "ATPases Associated with Diverse Cellular Activities, Cerebellar Diseases, Cholesterol, DNA, Mitochondrial, Genetic Association Studies, Humans, Membrane Proteins/genetics, Mitochondrial Proteins, Multigene Family",

author = "Peeters-Scholte, {Cacha M P C D} and {Adama van Scheltema}, {Phebe N} and Klumper, {Frans J C M} and Everwijn, {Sheila M P} and Marije Koopmans and Hoffer, {Mariette J V} and Koopmann, {Tamara T} and Ruivenkamp, {Claudia A L} and Steggerda, {Sylke J} and {van der Knaap}, {Marjo S} and Santen, {Gijs W E}",

year = "2017",

month = nov,

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doi = "10.1093/brain/awx239",

language = "English",

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Peeters-Scholte, CMPCD, Adama van Scheltema, PN, Klumper, FJCM, Everwijn, SMP, Koopmans, M, Hoffer, MJV, Koopmann, TT, Ruivenkamp, CAL, Steggerda, SJ, van der Knaap, MS & Santen, GWE 2017, 'Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance', Brain : a journal of neurology, vol. 140, no. 11, pp. e66. https://doi.org/10.1093/brain/awx239

TY - JOUR

T1 - Genotype-phenotype correlation in ATAD3A deletions

T2 - not just of scientific relevance

AU - Peeters-Scholte, Cacha M P C D

AU - Adama van Scheltema, Phebe N

AU - Klumper, Frans J C M

AU - Everwijn, Sheila M P

AU - Koopmans, Marije

AU - Hoffer, Mariette J V

AU - Koopmann, Tamara T

AU - Ruivenkamp, Claudia A L

AU - Steggerda, Sylke J

AU - van der Knaap, Marjo S

AU - Santen, Gijs W E

PY - 2017/11/1

Y1 - 2017/11/1

KW - ATPases Associated with Diverse Cellular Activities

KW - Cerebellar Diseases

KW - Cholesterol

KW - DNA, Mitochondrial

KW - Genetic Association Studies

KW - Humans

KW - Membrane Proteins/genetics

KW - Mitochondrial Proteins

KW - Multigene Family

UR - http://www.scopus.com/inward/record.url?scp=85034764647&partnerID=8YFLogxK

U2 - 10.1093/brain/awx239

DO - 10.1093/brain/awx239

M3 - Letter

C2 - 29053797

SN - 0006-8950

VL - 140

SP - e66

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

IS - 11

ER -

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Keywords

Access to Document

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