Results 191 to 200 of about 779,573 (302)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Comparison of the Effectiveness of Greater Occipital Nerve Block and Botulinum Toxin Type A in Chronic Migraine: An Exploratory Pilot Study From a Tertiary Care Centre in a Resource-Limited Setting. [PDF]

Cureus
Singh B, Singla M, Kaushal H, Kaur J, Singh G.   +4 more
europepmc   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

Annals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano, Francesca Palumbo, Gabriele Mora, Salvatore Gallone, Giovanni De Marco, Ilaria Merulla, Claudia Paolantonio, Alessandra Maccabeo, Antonio Canosa, Umberto Manera, Rosario Vasta, Barbara Iazzolino, Marcella Testa, Giuseppe Fuda, Paolina Salamone, Giulia Marchese, Federico Casale, Cristina Moglia, Andrea Calvo, Giuseppe Borghero, Adriano Chiò   +20 more
wiley   +1 more source

Forecasting migraine with time-series machine learning from mobile health data. [PDF]

J Headache Pain
Faisal F, Poole AC, Danelakis A, Wergeland T, Bjørk M, Khanevski AN, Kristoffersen ES, Kumelj T, Larsen ICK, Lunder OV, Matharu M, Nachev P, Simpson MR, Tronvik E, Vetvik KG, Winsvold BS, Øie LR, Øvrevik AB, Stubberud A.   +18 more
europepmc   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

Annals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola   +16 more
wiley   +1 more source

Translation and validation of the Migraine Interictal Burden Scale (MIBS-4) in an Italian clinical cohort. [PDF]

Neurol Sci
Piella EM, Chiarandon AM, Albanese M, Puddu EM, Pistoia F, Saporito G, Altieri M, Giuliani G, Vaghi G, Sances G, Munafò A, Chiarugi A, Ornello R, De Santis F, Valente M, Rao R, Russo A, Silvestro M, Roveta F, Montisano DA, Grazzi L, Battistini S, Boscain F, Mampreso E, Paolicelli D, Sacco S, Tassorelli C, Rubino E, Prudenzano MP, Rainero I, Italian Headache Registry (RICe) Study Group.   +30 more
europepmc   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

Hallmarks of headache disorders: part 5 - secondary headaches. [PDF]

J Headache Pain
García-Azorín D, Perez-de-la-Parte A, Tana C, Della Pietra A, Ornello R, Onan D, Waliszewska-Prosół M, Wang W, Messina R, Vuralli D, Petrusic I, Wells-Gatnik W, Chiang CC, Pellesi L, Puledda F, Raffaelli B, Rubio-Beltran E, Labastida-Ramirez A.   +17 more
europepmc   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

Microprolactinoma (Pituitary Adenoma) as a Cause of Secondary Headache in a Pediatric Patient With Pain and Restricted Mouth Opening: A Case Report. [PDF]

Case Rep Dent
Draghici R, Saracutu OI, Pollis M, Manfredini D.   +3 more
europepmc   +1 more source