Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

por Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Publicado 2020

Vitamin D concentration and focal brain atrophy in older adults: a voxel‐based morphometric study

por Ali, Pauline, Labriffe, Matthieu, Navasiolava, Nastassia, Custaud, Marc‐Antoine, Dinomais, Mickaël, Annweiler, Cédric
Publicado 2020

Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients

por Mammana, Angela, Baiardi, Simone, Rossi, Marcello, Franceschini, Alessia, Donadio, Vincenzo, Capellari, Sabina, Caughey, Byron, Parchi, Piero
Publicado 2020

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

por Piarroux, Julie, Riant, Florence, Humbertclaude, Véronique, Remerand, Ganaelle, Hadjadj, Jessica, Rejou, Franck, Coubes, Christine, Pinson, Lucile, Meyer, Pierre, Roubertie, Agathe
Publicado 2020

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy

por Romagnoli, Martina, La Morgia, Chiara, Carbonelli, Michele, Di Vito, Lidia, Amore, Giulia, Zenesini, Corrado, Cascavilla, Maria Lucia, Barboni, Piero, Carelli, Valerio
Publicado 2020

Optic nerve sheath diameter ultrasonography for elevated intracranial pressure detection

por Wang, Li‐Juan, Chen, Hong‐Xiu, Chen, Ying, Yu, Ze‐Yang, Xing, Ying‐Qi
Publicado 2020

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

por Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
Publicado 2020

In vivo evolution of biopsy‐proven inflammatory demyelination quantified by R2t* mapping

por Xiang, Biao, Wen, Jie, Lu, Hsiang‐Chih, Schmidt, Robert E., Yablonskiy, Dmitriy A., Cross, Anne H.
Publicado 2020

Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy

por Athanasopoulos, Diamantis, Motte, Jeremias, Fisse, Anna Lena, Grueter, Thomas, Trampe, Nadine, Sturm, Dietrich, Tegenthoff, Martin, Sgodzai, Melissa, Klimas, Rafael, Querol, Luis, Gold, Ralf, Pitarokoili, Kalliopi
Publicado 2020

The cerebral tremor circuit in a patient with Holmes tremor

por Nieuwhof, Freek, de Bie, Rob M.A., Praamstra, Peter, van den Munckhof, Pepijn, Helmich, Rick C.
Publicado 2020

Modulation of GABAergic dysfunction due to SCN1A mutation linked to Hippocampal Sclerosis

por Ruffolo, Gabriele, Martinello, Katiuscia, Labate, Angelo, Cifelli, Pierangelo, Fucile, Sergio, Di Gennaro, Giancarlo, Quattrone, Andrea, Esposito, Vincenzo, Limatola, Cristina, Giangaspero, Felice, Aronica, Eleonora, Palma, Eleonora, Gambardella, Antonio
Publicado 2020

Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults

por Tabarestani, Sepideh, Varriano, Brenda, Rawal, Sapna, France Morel, Chantal, Carmela Tartaglia, Maria, Andrade, Danielle M.
Publicado 2020

Centromedian thalamic responsive neurostimulation for Lennox‐Gastaut epilepsy and autism

por Kwon, Churl‐Su, Schupper, Alexander J., Fields, Madeline C., Marcuse, Lara V., La Vega‐Talbott, Maite, Panov, Fedor, Ghatan, Saadi
Publicado 2020

The case of a 30‐year‐old man with subacute gait instability, weakness, and muscle spasms

por Mehta, Mitesh P., Sokol, Leonard L.
Publicado 2020

Plasma lipidomics of monozygotic twins discordant for multiple sclerosis

por Penkert, Horst, Lauber, Chris, Gerl, Mathias J., Klose, Christian, Damm, Markus, Fitzner, Dirk, Flierl‐Hecht, Andrea, Kümpfel, Tania, Kerschensteiner, Martin, Hohlfeld, Reinhard, Gerdes, Lisa A., Simons, Mikael
Publicado 2020

Pregnancy in MNGIE: a clinical and metabolic honeymoon

por Pappalardo, Pauline, Benoist, Jean‐François, Bax, Bridget E., Carra‐Dallière, Clarisse, Marelli, Cecilia, Levene, Michele, Begue, Laetitia, Rolland, Anne, Flori, Nicolas, Rivier, François, Blanchet, Catherine, Munnich, Arnold, Altwegg, Romain, Meyer, Pierre, Roubertie, Agathe
Publicado 2020

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

por Nardecchia, Francesca, De Giorgi, Agnese, Palombo, Flavia, Fiorini, Claudio, De Negri, Anna M., Carelli, Valerio, Caporali, Leonardo, Leuzzi, Vincenzo
Publicado 2020

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy

por Brugger, Melanie, Becker‐Dettling, Fiona, Brunet, Theresa, Strom, Tim, Meitinger, Thomas, Lurz, Eberhard, Borggraefe, Ingo, Wagner, Matias
Publicado 2020

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome

por Alkhater, Reem A., Ahonen, Saija, Minassian, Berge A.
Publicado 2020

TDP‐43 as structure‐based biomarker in amyotrophic lateral sclerosis

por Beyer, Léon, Günther, René, Koch, Jan Christoph, Klebe, Stephan, Hagenacker, Tim, Lingor, Paul, Biesalski, Anne‐Sophie, Hermann, Andreas, Nabers, Andreas, Gold, Ralf, Tönges, Lars, Gerwert, Klaus
Publicado 2020