Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

Beenish Azad; Stephanie Efthymiou; Tipu Sultan; Marcello Scala; Javeria Raza Alvi; Caroline Neuray; Natalia Dominik; Asma Gul; Henry Houlden

doi:10.1016/j.jns.2020.116826

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

Beenish Azad, Stephanie Efthymiou, Tipu Sultan, Marcello Scala, Javeria Raza Alvi, Caroline Neuray, Natalia Dominik, Asma Gul, Henry Houlden

Department of Neurology

Research output: Contribution to journal › Original Article › peer-review

4 Citations (Web of Science)

Original language	English
Pages (from-to)	116826
Journal	JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume	414
DOIs	https://doi.org/10.1016/j.jns.2020.116826
Publication status	Published - 2020

Keywords

NEURAL CULTURES
MUTATIONS

Access to Document

10.1016/j.jns.2020.116826

Cite this

Azad, B., Efthymiou, S., Sultan, T., Scala, M., Alvi, J. R., Neuray, C., Dominik, N., Gul, A., & Houlden, H. (2020). Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. JOURNAL OF THE NEUROLOGICAL SCIENCES , 414, 116826. https://doi.org/10.1016/j.jns.2020.116826

Azad, Beenish ; Efthymiou, Stephanie ; Sultan, Tipu et al. / Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. In: JOURNAL OF THE NEUROLOGICAL SCIENCES 2020 ; Vol. 414. pp. 116826.

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title = "Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.",

keywords = "NEURAL CULTURES, MUTATIONS",

author = "Beenish Azad and Stephanie Efthymiou and Tipu Sultan and Marcello Scala and Alvi, {Javeria Raza} and Caroline Neuray and Natalia Dominik and Asma Gul and Henry Houlden",

note = "Neuray: Paracelsus Med Univ, Dept Neurol, Christian Doppler Klin, Salzburg, Austria",

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doi = "10.1016/j.jns.2020.116826",

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Azad, B, Efthymiou, S, Sultan, T, Scala, M, Alvi, JR, Neuray, C, Dominik, N, Gul, A & Houlden, H 2020, 'Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.', JOURNAL OF THE NEUROLOGICAL SCIENCES , vol. 414, pp. 116826. https://doi.org/10.1016/j.jns.2020.116826

Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. / Azad, Beenish; Efthymiou, Stephanie; Sultan, Tipu et al.
In: JOURNAL OF THE NEUROLOGICAL SCIENCES , Vol. 414, 2020, p. 116826.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis.

AU - Azad, Beenish

AU - Efthymiou, Stephanie

AU - Sultan, Tipu

AU - Scala, Marcello

AU - Alvi, Javeria Raza

AU - Neuray, Caroline

AU - Dominik, Natalia

AU - Gul, Asma

AU - Houlden, Henry

N1 - Neuray: Paracelsus Med Univ, Dept Neurol, Christian Doppler Klin, Salzburg, Austria

PY - 2020

Y1 - 2020

KW - NEURAL CULTURES

KW - MUTATIONS

U2 - 10.1016/j.jns.2020.116826

DO - 10.1016/j.jns.2020.116826

M3 - Original Article

C2 - 32302805

SN - 0022-510X

VL - 414

SP - 116826

JO - JOURNAL OF THE NEUROLOGICAL SCIENCES

JF - JOURNAL OF THE NEUROLOGICAL SCIENCES

ER -

Azad B, Efthymiou S, Sultan T, Scala M, Alvi JR, Neuray C et al. Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis. JOURNAL OF THE NEUROLOGICAL SCIENCES . 2020;414:116826. doi: 10.1016/j.jns.2020.116826