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Author Carles Gaig

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Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: a longitudinal observational study.

Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L Riha, Alison J E Green,

<h4>Background</h4>Isolated rapid-eye-movement (REM) sleep behaviour disorder (IRBD) can be part of the prodromal stage of the α-synucleinopathies Parkinson's disease and dementia with Lewy bodies. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has high sensitivity and specificity for the detection of misfolded α-synuclein in patients with Parkinson's disease and dementia with ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):203-212]

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Progression of Motor and Non-Motor Symptoms in Multiple System Atrophy: A Prospective Study from the Catalan-MSA Registry.

Alexandra Pérez-Soriano, Darly M Giraldo, Jose Ríos, Esteban Muñoz, Yaroslau Compta, María José Martí, ,

<h4>Background/objective</h4>Multiple system atrophy (MSA) is a highly debilitating, rare neurodegenerative disorder with two clinical motor variants (parkinsonian or MSA-P and cerebellar or MSA-C). There is a wide span of motor and non-motor symptoms (NMS) that progress over time. We studied the cohort from the Catalan Multiple System Atrophy Registry (CMSAR) ... Read more >>

J Parkinsons Dis (Journal of Parkinson's disease)
[2021, :]

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Magnetic resonance imaging abnormalities as a marker of multiple system atrophy in isolated rapid eye movement sleep behavior disorder.

Amaia Muñoz-Lopetegi, Joan Berenguer, Alex Iranzo, Monica Serradell, Teresa Pujol, Carles Gaig, Esteban Muñoz, Eduard Tolosa, Joan Santamaría,

<h4>Study objectives</h4>Patients with isolated rapid eye movement (REM) sleep behavior disorder (IRBD) develop Parkinson disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA). Magnetic resonance imaging (MRI) is abnormal in MSA showing abnormalities in the putamen, cerebellum, and brainstem. Our objective was to evaluate the usefulness of ... Read more >>

Sleep (Sleep)
[2021, 44(1):]

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Anti-IgLON5 Disease: A Long-course Presentation with a Response to Immunotherapy.

Javier Villacieros-Álvarez, Carlos Manuel Ordás, Gustavo Torres-Gaona, Ana Díez-Barrio, Cristina Prieto-Jurczynska, Carles Gaig,

Neurology (Neurology)
[2020, :]

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Cortical cholinergic dysfunction correlates with microglial activation in the substantia innominata in REM sleep behavior disorder.

Kristian Stær, Alex Iranzo, Morten G Stokholm, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina B Svendsen, Alicia Garrido, Dolores Vilas, Joan Santamaria, Arne Møller, Carles Gaig, David J Brooks, Per Borghammer, Eduardo Tolosa, Nicola Pavese,

<h4>Introduction</h4>In vivo PET studies in patients with isolated REM sleep behavior disorder (iRBD) have shown presence of neuroinflammation (microglial activation) in the substantia nigra, and reduced cortical acetylcholinesterase activity, suggestive of cholinergic dysfunction, that was more widespread in patients with poorer cognitive performances. This study aimed to explore whether reduced ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 81:89-93]

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Stridor during sleep: description of 81 consecutive cases diagnosed in a tertiary sleep disorders center.

Cristiana Silva, Alex Iranzo, Gerard Maya, Mónica Serradell, Amaia Muñoz-Lopetegi, Paula Marrero-González, Carles Gaig, Joan Santamaría, Isabel Vilaseca,

<h4>Objective</h4>To describe the characteristics of stridor during sleep (SDS) in a series of adults identified by video-polysomnography (V-PSG).<h4>Methods</h4>Retrospective clinical, V-PSG, laryngoscopic and therapeutic data of patients diagnosed with SDS in a tertiary referral sleep disorders center between 1997 and 2017.<h4>Results</h4>Eighty-one patients were identified (56.8% males, age 61.8 ± 11.2 years). ... Read more >>

Sleep (Sleep)
[2020, :]

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Significance of hyposmia in isolated REM sleep behavior disorder.

Alex Iranzo, Paula Marrero-González, Mónica Serradell, Carles Gaig, Joan Santamaria, Isabel Vilaseca,

<h4>Objective</h4>To determine if hyposmia in isolated REM sleep behavior disorder (IRBD) predicts short-term conversion to any α-synucleinopathy and declines with time.<h4>Methods</h4>Olfaction was tested using the University of Pennsylvania Smell Identification Test (UPSIT-40) in 140 consecutive patients with polysomnography-confirmed IRBD and in 77 matched controls. Patients were followed-up during 5.6 ± 3.9 (range ... Read more >>

J Neurol (Journal of neurology)
[2021, 268(3):963-966]

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Alpha-synuclein seeds in olfactory mucosa of patients with isolated rapid-eye-movement sleep behaviour disorder

Ambra Stefani, Alex Iranzo, Evi Holzknecht, Daniela Perra, Matilde Bongianni, Carles Gaig, Beatrice Heim, Monica Serradell, Luca Sacchetto, Alicia Garrido, Stefano Capaldi, Almudena Sánchez-Gómez, Michele Fiorini, Joachim Schmutzhard, Pietro Cocchiara, Isabel Vilaseca, Lorenzo Brozzetti, Salvatore Monaco, Jose Marti, Klaus Seppi, Eduardo Tolosa, Joan Santamaria, Birgit Högl, Werner Poewe, Gianluigi Zanusso, ,

<h4>ABSTRACT</h4> Isolated REM sleep behaviour disorder is an early-stage α-synucleinopathy in most, if not all, affected subjects. Detection of pathological alpha-synuclein in peripheral tissues of isolated REM sleep behaviour disorder patients may identify those progressing to Parkinson’s disease, dementia with Lewy bodies or multiple system atrophy, with the ultimate goal ... Read more >>

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Prodromal Parkinson disease in patients with idiopathic hyposmia.

Paula Marrero-González, Alex Iranzo, David Bedoya, Mònica Serradell, Aida Niñerola-Baizán, Andrés Perissinotti, Carles Gaig, Isabel Vilaseca, Isam Alobid, Joan Santamaría, Joaquim Mullol,

<h4>Background</h4>Idiopathic hyposmia (IH) is a prodromal marker of Parkinson disease (PD). However, IH is common in the general population and only a minority will develop PD. Identification of individuals with IH at prodromal stage of PD would serve to select them to implement neuroprotective agents, when available.<h4>Objective</h4>To identify prodromal PD ... Read more >>

J Neurol (Journal of neurology)
[2020, 267(12):3673-3682]

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Effects of IgLON5 Antibodies on Neuronal Cytoskeleton: A Link between Autoimmunity and Neurodegeneration.

Jon Landa, Carles Gaig, Jesús Plagumà, Albert Saiz, Ana Antonell, Raquel Sanchez-Valle, Josep Dalmau, Francesc Graus, Lidia Sabater,

Anti-IgLON5 disease is a neurological disorder characterized by autoantibodies against IgLON5 and pathological evidence of neuronal-specific tau accumulation. Here, we report that patients' IgLON5 IgG, but not other cell-surface antibodies, disrupt the cytoskeletal organization in cultured rat hippocampal neurons, resulting in dystrophic neurites and axonal swelling. Adsorption of IgLON5 IgG ... Read more >>

Ann Neurol (Annals of neurology)
[2020, 88(5):1023-1027]

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Transcriptomic differences in MSA clinical variants.

Alexandra Pérez-Soriano, Magdalena Arnal Segura, Teresa Botta-Orfila, Darly Giraldo, Manel Fernández, Yaroslau Compta, Rubén Fernández-Santiago, Mario Ezquerra, Gian G Tartaglia, M J Martí, ,

<h4>Background</h4>Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C).<h4>Objective</h4>To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene expression changes and biological process alterations in MSA and its clinical subtypes.<h4>Methods</h4>We ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):10310]

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Left-hemispheric predominance of nigrostriatal deficit in isolated REM sleep behavior disorder.

Alex Iranzo, Ambra Stefani, Aida Niñerola-Baizan, Heike Stokner, Monica Serradell, Dolores Vilas, Evi Holzknecht, Carles Gaig, Javier Pavia, Francesc Lomeña, David Reyes, Klaus Seppi, Joan Santamaria, Birgit Högl, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:Unilateral onset of parkinsonism due to nigrostriatal damage of the contralateral hemisphere is frequent in Parkinson disease (PD). There is evidence for a left-hemispheric bias of motor asymmetry in right-handed patients with PD indicating a hemispheric dominance. Isolated REM sleep behavior disorder (IRBD) constitutes the prodromal stage of PD and ... Read more >>

Neurology (Neurology)
[2020, 94(15):e1605-e1613]

Cited: 3 times

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Lack of Asymmetry of Nigrostriatal Dopaminergic Function in Healthy Subjects.

Alicia Garrido, Alex Iranzo, Ambra Stefani, Mònica Serradell, Amaia Muñoz-Lopetegi, Paula Marrero, Birgit Högl, Carles Gaig, Joan Santamaria, Eduard Tolosa, Werner Poewe, ,

OBJECTIVE:In right-handed patients with Parkinson's disease (PD) or isolated rapid eye movement sleep behavior disorder, dopamine transporter (DAT) [(123)I]β-carboxymethyoxy-3-β-(4-iodophenyl) tropane single photon emission computed tomography (SPECT) shows predominant nigrostriatal deficit in the left striatum. This suggests that in PD patients, the nigrostriatal system of the dominant hemisphere is more susceptible ... Read more >>

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2020, 35(6):1072-1076]

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A new incidence peak of childhood narcolepsy type 1 in 2013: a new perspective on the role of influenza virus?

Zhongxing Zhang, Jari Gool, Rolf Fronczek, Claudio Bassetti, Yves Dauvilliers, Geert Mayer, Giuseppe Plazzi, Fabio Pizza, Joan Santamaria, Markku Partinen, Sebastiaan Overeem, Rosa Peraita-Adrados, Antonio Martins da Silva, Karel Sonka, Rafael del Rio-Villegas, Raphael Heinzer, Aleksandra Wierzbicka, Peter Young, Birgit Högl, Mauro Manconi, Eva Feketeova, Johannes Mathis, Teresa Paiva, Francesca Canellas, Michel Lecendreux, Christian Baumann, Lucie Barateau, Carole Pesenti, Elena Antelmi, Carles Gaig, Alex Iranzo, Laura Lillo-Triguero, Pablo Medrano-Martínez, José Haba-Rubio, Corina Gorban, Gert-Jan Lammers, Ramin Khatami,

Increased incidence rates of narcolepsy type 1 (NT1) after the 2009-2010 H1N1 influenza pandemic (pH1N1) have been reported world-wide. While some European countries found an association between the NT1 increase and H1N1 vaccination Pandemrix, reports from Asian countries suggested the H1N1 virus rather than Pandemrix to be linked with the ... Read more >>

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Isolated rapid eye movement sleep behavior disorder and cyclic alternating pattern: is sleep microstructure a predictive parameter of neurodegeneration?

Andrea Melpignano, Liborio Parrino, Joan Santamaria, Carles Gaig, Irene Trippi, Monica Serradell, Carlotta Mutti, Matteo Riccò, Alex Iranzo,

<h4>Objective</h4>To evaluate the role of sleep cyclic alternating pattern (CAP) in patients with isolated REM sleep behavior disorder (IRBD) and ascertain whether CAP metrics might represent a marker of phenoconversion to a defined neurodegenerative condition.<h4>Methods</h4>Sixty-seven IRBD patients were included and classified into patients who phenoconverted to a neurodegenerative disease (RBD ... Read more >>

Sleep (Sleep)
[2019, 42(10):]

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Characterization of the sleep disorder of anti-IgLON5 disease.

Carles Gaig, Alex Iranzo, Christian Cajochen, Isabel Vilaseca, Cristina Embid, Josep Dalmau, Francesc Graus, Joan Santamaria,

<h4>Study objective</h4>To characterize the sleep disorder of anti-IgLON5 disease.<h4>Methods</h4>We reviewed 27 video-polysomnographies (V-PSG), 6 multiple sleep latency tests (MSLT), 2 videsomnoscopies with dexmedetomidine, and 10 actigraphies recorded during the disease course of five patients. Due to severe sleep architecture abnormalities, we used a novel modified sleep scoring system combining conventional ... Read more >>

Sleep (Sleep)
[2019, 42(9):]

Cited: 2 times

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HLA and microtubule-associated protein tau H1 haplotype associations in anti-IgLON5 disease.

Carles Gaig, Guadalupe Ercilla, Xavier Daura, Mario Ezquerra, Ruben Fernández-Santiago, Eduard Palou, Lidia Sabater, Romana Höftberger, Anna Heidbreder, Birgit Högl, Alex Iranzo, Joan Santamaria, Josep Dalmau, Francesc Graus,

<h4>Objectives</h4>We investigated the associations with HLA and microtubule-associated protein tau (<i>MAPT</i>) H1 haplotype in anti-IgLON5 disease, a recently identified disorder characterized by gait instability, brainstem dysfunction, and a prominent sleep disorder in association with IgLON5 antibodies and pathologic findings of a novel neuronal-specific tauopathy.<h4>Methods</h4>We compared the HLA alleles and <i>MAPT</i> ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2019, 6(6):]

Cited: 4 times

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Clinical and video-polysomnographic analysis of rapid eye movement sleep behavior disorder and other sleep disturbances in dementia with Lewy bodies.

Ana Fernández-Arcos, Estrella Morenas-Rodríguez, Joan Santamaria, Raquel Sánchez-Valle, Albert Lladó, Carles Gaig, Alberto Lleó, Alex Iranzo,

<h4>Objective</h4>The main objective of this study was to study rapid eye movement (REM) sleep behavior disorder (RBD) and other sleep disorders in dementia with Lewy bodies (DLB).<h4>Methods</h4>Consecutive patients with DLB and mild dementia severity were recruited irrespective of sleep complaints. Patients underwent clinical interview, assessment of sleep scales, and video-polysomnography ... Read more >>

Sleep (Sleep)
[2019, 42(7):]

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Neurological profiles beyond the sleep disorder in patients with anti-IgLON5 disease.

Carles Gaig, Yaroslau Compta,

PURPOSE OF REVIEW:Anti-IgLON5 disease is a novel entity characterized by a distinctive sleep disorder associated with a variety of neurological symptoms, antibodies against IgLON5, and pathological findings of neuronal tauopathy. The characteristic sleep disorder occurs in most patients, but other neurological symptoms are also important because they can be the ... Read more >>

Curr Opin Neurol (Current opinion in neurology)
[2019, 32(3):493-499]

Cited: 3 times

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Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study.

Yaroslau Compta, Sara P Dias, Darly M Giraldo, Alexandra Pérez-Soriano, Esteban Muñoz, Josep Saura, Manel Fernández, Paloma Bravo, Ana Cámara, Marta Pulido-Salgado, Cèlia Painous, José Ríos, María José Martí, ,

<h4>Introduction</h4>Neuroinflammation is a potential player in neurodegenerative conditions, particularly the aggressive ones, such as multiple system atrophy (MSA). Previous reports on cytokine levels in MSA using serum or cerebrospinal fluid (CSF) have been inconsistent, including small samples and a limited number of cytokines, often without comparison to Parkinson's disease (PD), ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2019, 65:3-12]

Cited: 3 times

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Change in neuron specific enolase levels in out-of-hospital cardiopulmonary arrest survivors as a simple and useful tool to predict neurological prognosis.

Agnès Rafecas, Jordi Bañeras, Jordi Sans-Roselló, José T Ortiz-Pérez, Ferran Rueda-Sobella, Estevo Santamarina, Laia Milà, Alessandro Sionis, Carles Gaig, Cosme García-García, José A Barrabés, David García-Dorado, Rosa-Maria Lidón,

INTRODUCTION AND OBJECTIVES:Neuron-specific enolase (NSE) is a prognostic marker in out-of-hospital cardiopulmonary arrest (OHCA) survivors treated with mild therapeutic hypothermia (MTH). The objectives were to analyze the correlation between dynamic changes in NSE and outcomes and to determine the measurement timing that best predicts neurological status. METHODS:Multicenter cohort study including ... Read more >>

Rev Esp Cardiol (Engl Ed) (Revista espanola de cardiologia (English ed.))
[2020, 73(3):232-240]

Cited: 1 time

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Cortical Gray Matter and Hippocampal Atrophy in Idiopathic Rapid Eye Movement Sleep Behavior Disorder.

Anna Campabadal, Barbara Segura, Carme Junque, Monica Serradell, Alexandra Abos, Carme Uribe, Hugo C Baggio, Carles Gaig, Joan Santamaria, Yaroslau Compta, Nuria Bargallo, Alex Iranzo,

<b>Objective:</b> In this study we investigate cortical and subcortical gray matter structure in patients with Idiopathic REM-sleep behavior disorder (IRBD), and their relation to cognitive performance. <b>Methods:</b> This study includes a sample of 20 patients with polysomnography-confirmed IRBD and 27 healthy controls that underwent neuropsychological and T1-weighted MRI assessment. FreeSurfer ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:312]

Cited: 1 time

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Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: a multicentre study.

Ronald B Postuma, Alex Iranzo, Michele Hu, Birgit Högl, Bradley F Boeve, Raffaele Manni, Wolfgang H Oertel, Isabelle Arnulf, Luigi Ferini-Strambi, Monica Puligheddu, Elena Antelmi, Valerie Cochen De Cock, Dario Arnaldi, Brit Mollenhauer, Aleksandar Videnovic, Karel Sonka, Ki-Young Jung, Dieter Kunz, Yves Dauvilliers, Federica Provini, Simon J Lewis, Jitka Buskova, Milena Pavlova, Anna Heidbreder, Jacques Y Montplaisir, Joan Santamaria, Thomas R Barber, Ambra Stefani, Erik K St Louis, Michele Terzaghi, Annette Janzen, Smandra Leu-Semenescu, Guiseppe Plazzi, Flavio Nobili, Friederike Sixel-Doering, Petr Dusek, Frederik Bes, Pietro Cortelli, Kaylena Ehgoetz Martens, Jean-Francois Gagnon, Carles Gaig, Marco Zucconi, Claudia Trenkwalder, Ziv Gan-Or, Christine Lo, Michal Rolinski, Philip Mahlknecht, Evi Holzknecht, Angel R Boeve, Luke N Teigen, Gianpaolo Toscano, Geert Mayer, Silvia Morbelli, Benjamin Dawson, Amelie Pelletier,

Idiopathic REM sleep behaviour disorder (iRBD) is a powerful early sign of Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. This provides an unprecedented opportunity to directly observe prodromal neurodegenerative states, and potentially intervene with neuroprotective therapy. For future neuroprotective trials, it is essential to accurately estimate phenoconversion ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(3):744-759]

Cited: 47 times

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Narcolepsy and adjuvanted pandemic influenza A (H1N1) 2009 vaccines - Multi-country assessment.

Daniel Weibel, Miriam Sturkenboom, Steven Black, Maria de Ridder, Caitlin Dodd, Jan Bonhoeffer, Ann Vanrolleghem, Nicoline van der Maas, Gert Jan Lammers, Sebastiaan Overeem, Angela Gentile, Norberto Giglio, Vanesa Castellano, Jeffrey C Kwong, Brian J Murray, Karen Cauch-Dudek, Diana Juhasz, Michael Campitelli, Alexandre N Datta, Ulf Kallweit, Wan-Ting Huang, Yu-Shu Huang, Chung-Yao Hsu, Hsi-Chung Chen, Maria Giner-Soriano, Rosa Morros, Carles Gaig, Ester Tió, Silvia Perez-Vilar, Javier Diez-Domingo, Francisco Javier Puertas, Lawrence W Svenson, Salaheddin M Mahmud, Bruce Carleton, Monika Naus, Lisen Arnheim-Dahlström, Lars Pedersen, Frank DeStefano, Tom T Shimabukuro,

BACKGROUND:In 2010, a safety signal was detected for narcolepsy following vaccination with Pandemrix, an AS03-adjuvanted monovalent pandemic H1N1 influenza (pH1N1) vaccine. To further assess a possible association and inform policy on future use of adjuvants, we conducted a multi-country study of narcolepsy and adjuvanted pH1N1 vaccines. METHODS:We used electronic health ... Read more >>

Vaccine (Vaccine)
[2018, 36(41):6202-6211]

Cited: 7 times

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Exploring the clinical features of narcolepsy type 1 versus narcolepsy type 2 from European Narcolepsy Network database with machine learning.

Zhongxing Zhang, Geert Mayer, Yves Dauvilliers, Giuseppe Plazzi, Fabio Pizza, Rolf Fronczek, Joan Santamaria, Markku Partinen, Sebastiaan Overeem, Rosa Peraita-Adrados, Antonio Martins da Silva, Karel Sonka, Rafael Del Rio-Villegas, Raphael Heinzer, Aleksandra Wierzbicka, Peter Young, Birgit Högl, Claudio L Bassetti, Mauro Manconi, Eva Feketeova, Johannes Mathis, Teresa Paiva, Francesca Canellas, Michel Lecendreux, Christian R Baumann, Lucie Barateau, Carole Pesenti, Elena Antelmi, Carles Gaig, Alex Iranzo, Laura Lillo-Triguero, Pablo Medrano-Martínez, José Haba-Rubio, Corina Gorban, Gianina Luca, Gert Jan Lammers, Ramin Khatami,

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a ... Read more >>

Sci Rep (Scientific reports)
[2018, 8(1):10628]

Cited: 1 time

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