Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Christopher Grunseich; Alice B. Schindler; Ke lian Chen; Dara Bakar; Ami Mankodi; Ryan Traslavina; Abhik Ray-Chaudhury; Tanya J. Lehky; Eva H. Baker; Nicholas J. Maragakis; Cynthia J. Tifft; Kenneth H. Fischbeck

doi:10.1007/s00415-015-7683-x

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Christopher Grunseich, Alice B. Schindler, Ke lian Chen, Dara Bakar, Ami Mankodi, Ryan Traslavina, Abhik Ray-Chaudhury, Tanya J. Lehky, Eva H. Baker, Nicholas J. Maragakis, Cynthia J. Tifft, Kenneth H. Fischbeck

School of Medicine

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

Original language	English (US)
Pages (from-to)	1066-1068
Number of pages	3
Journal	Journal of neurology
Volume	262
Issue number	4
DOIs	https://doi.org/10.1007/s00415-015-7683-x
State	Published - Apr 1 2015

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1007/s00415-015-7683-x

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. / Grunseich, Christopher; Schindler, Alice B.; Chen, Ke lian; Bakar, Dara; Mankodi, Ami; Traslavina, Ryan; Ray-Chaudhury, Abhik; Lehky, Tanya J.; Baker, Eva H.; Maragakis, Nicholas J.; Tifft, Cynthia J.; Fischbeck, Kenneth H.

In: Journal of neurology, Vol. 262, No. 4, 01.04.2015, p. 1066-1068.

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

Grunseich, Christopher ; Schindler, Alice B. ; Chen, Ke lian ; Bakar, Dara ; Mankodi, Ami ; Traslavina, Ryan ; Ray-Chaudhury, Abhik ; Lehky, Tanya J. ; Baker, Eva H. ; Maragakis, Nicholas J. ; Tifft, Cynthia J. ; Fischbeck, Kenneth H. / Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. In: Journal of neurology. 2015 ; Vol. 262, No. 4. pp. 1066-1068.

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title = "Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency",

author = "Christopher Grunseich and Schindler, {Alice B.} and Chen, {Ke lian} and Dara Bakar and Ami Mankodi and Ryan Traslavina and Abhik Ray-Chaudhury and Lehky, {Tanya J.} and Baker, {Eva H.} and Maragakis, {Nicholas J.} and Tifft, {Cynthia J.} and Fischbeck, {Kenneth H.}",

note = "Funding Information: We thank Elizabeth Hartnett for her help with arranging the subject visits and evaluations and Dr. Andrea C. Corse for her help in acquiring tissue from Johns Hopkins University. This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke, NIH. ",

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doi = "10.1007/s00415-015-7683-x",

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T1 - Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

AU - Grunseich, Christopher

AU - Schindler, Alice B.

AU - Chen, Ke lian

AU - Bakar, Dara

AU - Mankodi, Ami

AU - Traslavina, Ryan

AU - Ray-Chaudhury, Abhik

AU - Lehky, Tanya J.

AU - Baker, Eva H.

AU - Maragakis, Nicholas J.

AU - Tifft, Cynthia J.

AU - Fischbeck, Kenneth H.

N1 - Funding Information: We thank Elizabeth Hartnett for her help with arranging the subject visits and evaluations and Dr. Andrea C. Corse for her help in acquiring tissue from Johns Hopkins University. This work was supported by intramural funding from the National Institute of Neurological Disorders and Stroke, NIH.

PY - 2015/4/1

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U2 - 10.1007/s00415-015-7683-x

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AN - SCOPUS:84939934741

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SP - 1066

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JO - Deutsche Zeitschrift fur Nervenheilkunde

JF - Deutsche Zeitschrift fur Nervenheilkunde

SN - 0340-5354

IS - 4

ER -

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

ASJC Scopus subject areas

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