Results 191 to 200 of about 33,626 (284)

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed. [PDF]

Mov Disord Clin Pract
Innocenti A, Roze E, Riant F, François-Heude MC, Lecardonnel B, Garone G, Colmard M, Chauvet-Piat E, Chaux AC, Spitz MA, Desnous B, Sarret C, Damier P, Wirth T, Anheim M, Retailleau E, Conabady E, Dubacq C, Trouillard O, Méneret A, Roubertie A.   +20 more
europepmc   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Subcutaneous foslevodopa/foscarbidopa initiation in a Parkinson's day-clinic - a suitable setting to ensure treatment efficacy, tolerability and psychosocial adaption. [PDF]

Front Aging Neurosci
Jander A, Bergner S, Schönwald B, Pötter-Nerger M, Buhmann C, Hidding U.   +5 more
europepmc   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Targeting metabotropic glutamate receptors for symptomatic and disease-modifying treatment in Parkinson's disease. [PDF]

NPJ Parkinsons Dis
Alborghetti M, Ceccherelli A, Caridi M, Nicoletti F, Battaglia G, Bruno V.   +5 more
europepmc   +1 more source

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

GLUT1 deficiency syndrome in adulthood: lost in diagnosis. [PDF]

BMJ Neurol Open
Previtali R, Adami L, Benvenuto C, Gianola L, Segarizzi C, Benzoni C, Granata T, Veggiotti P, Ragona F.   +8 more
europepmc   +1 more source

Tardive dyskinesia in 2 patients treated with ziprasidone

, 2004
Jambur Ananth, Karl Burgoyne, David Niz, Michael Smith   +3 more
openalex   +2 more sources

Lung organoids as a human system for Mycobacteria infection modeling and drug testing

The FEBS Journal, EarlyView.
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza, Romain Vergé, Raoul Mazars, Laurence Berry, Céline Cougoule   +4 more
wiley   +1 more source