Results 151 to 160 of about 5,681 (206)

Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring

Frontiers in Neurology
Eleonora Bonaventura, Eleonora Bonaventura, Luisella Alberti, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Giana Izzo, Cecilia Parazzini, Cecilia Parazzini, Alessandra Bosetti, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Matilde Ferrario, Chiara Mameli, Chiara Mameli, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Silvia Masnada, Gian Vincenzo Zuccotti, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Luigina Spaccini, Maria Iascone, Elvira Verduci, Elvira Verduci, Elvira Verduci, Cristina Cereda, Cristina Cereda, Davide Tonduti, Davide Tonduti, Davide Tonduti, XALD-NBS Study Group, Gianluca Lista, Paola Fontana, Tiziana Varisco, Olivia Casati, Alberto Fabio Podestà, Maddalena Gibelli, Stefano Martinelli, Roberta Restelli, Laura Maria Pogliani, Roberta Agistri, Marco Giuseppe Nedbal, Paolo Vaglia, Chryssoula Tzialla, Luisa Magnani, Elena Sala, Laura Lorioli, Giuseppe Banderali, Diana Ghisleni, Bruno Drera, Marta Frittoli, Francesca Lizzoli, Marta Bellini, Paola Bruni, Ilaria Giulini, Valentina Benedetti, Valentina Polimeni, Nadia Salvoni, Masotina Raffaele, Cristina Bellan, Roberto Bottino, Graziano Barera, Antonella Poloniato, Marta Odoni, Ilaria Dalla Verde, Massimo Agosti, Angela Bossi, Anna Tosi, Anna Elisabetta Bussolini, Francesco Maria Risso, Vania Spinoni, Nicola Altamura, Patrizia Ballista, Silvia Di Chio, Luciana Pagani, Lidia Decembrino, Michela Grignani, Grazia Morandi, Valeria Angela Fasolato, Lorella Rossi, Emilio Palumbo, Alessandro Lepore, Maria Forestieri, Stefano Ghirardello, Elisa Civardi, Paolo Adamoli, Roberta Giacchero, Giovanni Traina, Patrizia Calzi, Fenesia Pedace, Marco Sala   +102 more
doaj   +1 more source

The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature. [PDF]

J Neurol
Wade C, de Paiva ARB, Nóbrega PR, de Freitas Ferreira ACA, Borges ACM, Pinto LF, Brandão P, Saffi PMNR, Vasconcellos LF, Rangel DM, Matos PCAAP, Pessoa ALS, Embiruçu EK, Cabral KSS, Kok F, Chowdhury R, Roberts J, Chataway J, Barkhof F, Hayton T, Adams ME, Lynch DS.   +21 more
europepmc   +1 more source

Expanding the Genotype Spectrum- A Novel POLR3B Variant in 4H Leukodystrophy. [PDF]

Ann Indian Acad Neurol
Sachithanandan S, Krishnan S, Urulangodi M, Puthenveedu DK, Vijayaraghavan A.   +4 more
europepmc   +1 more source

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source

Long-Standing Corticomedullary Hyperintensities in a Patient with Probable Neuronal Intranuclear Inclusion Disease. [PDF]

Ann Indian Acad Neurol
Kim Y, Park H.
europepmc   +1 more source

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). [PDF]

Mol Genet Metab
Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.   +23 more
europepmc   +1 more source

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis. [PDF]

Neuroimage Clin
Vorst GHJ, Wolf NI, van Nederpelt DR, Barkhof F, van der Knaap MS, Schoonheim MM, Strijbis EMM, Pouwels PJW.   +7 more
europepmc   +1 more source

Leukodystrophies

, 2019
openaire   +2 more sources