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

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@article{05a4aa4d8ff6412697e5d18a2105c971,

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",

note = "Publisher Copyright: {\textcopyright} 2021 Elsevier Ltd",

year = "2021",

doi = "10.1016/j.parkreldis.2021.03.023",

language = "English",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

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TY - JOUR

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 - http://www.scopus.com/inward/record.url?scp=85103953900&partnerID=8YFLogxK

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

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