Involuntary moaning in a Hispanic family with eight affected members

Maria Gisatulin; Malco Rossi; Claudia Perandones; Christine Klein; Katja Lohmann; Marcelo Merello

doi:10.1016/j.parkreldis.2021.03.023

Involuntary moaning in a Hispanic family with eight affected members

Maria Gisatulin, Malco Rossi^*, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello

^*Corresponding author for this work

Institute of Neurogenetics

Abstract

Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.

Original language	English
Journal	Parkinsonism and Related Disorders
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2021.03.023
Publication status	Published - 2021

Funding

This work was supported by the University of Lübeck. The authors do not have any competing interest. MG received a scholarship from the University of Lübeck for her medical thesis (“Promotionsstipendium Exzellenzmedizin”). CK serves as a medical advisor to Centogene for genetic testing reports in the field of movement disorders and dementia, excluding Parkinson's disease. KL received funding from the German Research Foundation, the International Parkinson disease and Movement Disorder Society, and the Damp Foundation. This work was supported by the University of L?beck.

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.parkreldis.2021.03.023

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title = "Involuntary moaning in a Hispanic family with eight affected members",

abstract = "Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.",

author = "Maria Gisatulin and Malco Rossi and Claudia Perandones and Christine Klein and Katja Lohmann and Marcelo Merello",

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T1 - Involuntary moaning in a Hispanic family with eight affected members

AU - Gisatulin, Maria

AU - Rossi, Malco

AU - Perandones, Claudia

AU - Klein, Christine

AU - Lohmann, Katja

AU - Merello, Marcelo

PY - 2021

Y1 - 2021

N2 - Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.

AB - Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.

UR - https://www.scopus.com/pages/publications/85103953900

U2 - 10.1016/j.parkreldis.2021.03.023

DO - 10.1016/j.parkreldis.2021.03.023

M3 - Letters

C2 - 33814296

AN - SCOPUS:85103953900

SN - 1353-8020

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

ER -

Involuntary moaning in a Hispanic family with eight affected members

Abstract

Funding

UN SDGs

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