Results 71 to 80 of about 1,085 (157)

Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy

Journal of the Neurological Sciences
Biallelic loss-of-function variants in CLCN2 lead to CLCN2-related leukoencephalopathy (CC2L), also called leukoencephalopathy with ataxia (LKPAT). CC2L is characterized clinically by a spectrum of clinical presentations including childhood- to adult-onset mild ataxia, spasticity, cognitive decline, and vision loss as well as typical MRI findings of ...
Kenta, Orimo, Takashi, Matsukawa, Akihiko, Mitsutake, Takusei, Cho, Hiroya, Naruse, Yoshio, Sakiyama, Kensho, Sumi, Naohiro, Uchio, Akane, Satake, Yoshihisa, Takiyama, Takuya, Matsushita, Yosuke, Omae, Yosuke, Kawai, Katsushi, Tokunaga, Jun, Mitsui, Hiroyuki, Ishiura, Shoji, Tsuji, Tatsushi, Toda   +17 more
openaire   +2 more sources

Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization

The FASEB Journal, Volume 40, Issue 17, 15 September 2026.
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde, Jessem Landoulsi, Xavier Houard   +2 more
wiley   +1 more source

Genetic Diversity of the Polyomavirus JC and Implications for the Pathogenesis of Progressive Multifocal Leukoencephalopathy

Viruses
JC Polyomavirus (JCPyV) is a non-enveloped virus with circular double stranded DNA responsible for the rare but fatal demyelinating disease known as progressive multifocal leukoencephalopathy (PML). In its host, this virus exists in two different forms: one found in the periphery, named archetype, and another found in the central nervous system, named ...
Michael P. Wilczek, Sebastien Lhomme
openaire   +1 more source

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

, 2017
Abnormalities of CNS white matter are frequently detected in patients with neurological disorders when MRI studies are performed. Among the many causes of such abnormalities, a large group of rare genetic diseases poses considerable diagnostic problems.
Kohlschuetter, Alfried, Bley, Annette, Brockmann, Knut, Gärtner, Jutta, Kraegeloh-Mann, Ingeborg, Rolfs, Arndt, Schoels, Ludger   +6 more
openaire   +1 more source

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

Commentary: Progressive multifocal leukoencephalopathy genetic risk variants for pharmacovigilance of immunosuppressant therapies

Frontiers in Neurology, 2023
Joseph R. Berger, Hans-Peter Hartung, Hans-Peter Hartung, Hans-Peter Hartung   +3 more
openaire   +3 more sources

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Novel Homozygous <i>LAMC3</i> Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization. [PDF]

Life (Basel)
Bozlak S, Yavas C, Yilmaz HI, Sonmez O, Perk P, Esen TE, Cetinkaya D, Dogan T, Bozlak S.   +8 more
europepmc   +1 more source

CLCN2-Related Leukoencephalopathy Presenting as Isolated Paroxysmal Non-Kinesigenic Dyskinesia: Clinical, Imaging, and Genetic Correlations. [PDF]

J Mov Disord
Roy S, Mundlamuri RC, Vengalil S, Raja P, Atchayaram N, Yadav R.   +5 more
europepmc   +1 more source

Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance. [PDF]

Arq Neuropsiquiatr
Ruffini ML, Pereira DA, Helmer RS, Souza AM, Lima BS, Baccarin G, Yamada GK, Borella LFM, Turci RD, Duarte JÁ, Reis F.   +10 more
europepmc   +1 more source