Results 131 to 140 of about 80,232 (259)

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Alcohol Withdrawal Presenting with Unusual Eye Movements

Movement Disorders Clinical Practice, EarlyView.
Inge M. Kenter, Harm J. van der Horn
wiley   +1 more source

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

Movement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg   +26 more
wiley   +1 more source

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

, 2008
Ikeda, Yoshio, Jackson, Mandy, Kawarabayashi, Takeshi, Kimura, Tamaki, Matsubara, Etsuro, Miki, Yasuo, Monai, Natsuki, Seino, Yusuke, Shoji, Mikio, Suzuki, Chieko, Tomiyama, Masahiko, Wakasaya, Yasuhito, Watanabe, Mitsunori, Yamamoto-Watanabe, Yukiko   +13 more
core   +1 more source

Types of Pain in Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Pain affects up to 87% of people with multiple system atrophy (MSA), but it remains unclear which types of pain contribute most to the overall burden. Objective To estimate the frequency of different types of pain in MSA individuals.
Nicole Campese, Mubasher A. Qamar, Maria Alexandra Chiriac, Georg Göbel, Julia Wanschitz, Andreas Schlager, Bianca Caliò, Fabian Leys, Pam Bower, Laura Zamarian, Anette Schrag, Roy Freeman, Horacio Kaufmann, Roberta Granata, Stefan Kiechl, Werner Poewe, Klaus Seppi, Gregor Wenning, K. Ray Chaudhuri, Alessandra Fanciulli   +19 more
wiley   +1 more source

Opsoclonus‐Myoclonus‐Ataxia Syndrome Associated with Coexisting Anti‐N‐Methyl‐D‐Aspartate Receptor and Glial Fibrillary Acidic Protein Antibodies

Movement Disorders Clinical Practice, EarlyView.
Eriko Igami, Yutaka Oji, Akihiro Yamaguchi, Shin‐ichi Ueno, Yuji Tomizawa, Taiji Tsunemi, Taku Hatano, Nobutaka Hattori   +7 more
wiley   +1 more source

The Cerebellar Cognitive‐Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal‐Recessive Spastic Ataxia of Charlevoix‐Saguenay: A Large International Cross‐Sectional Study

Movement Disorders, EarlyView.
Abstract Background Neuropsychological deficits have been observed in patients with cerebellar damage, but never thoroughly investigated in autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS). Objectives The goal is the characterization of presence, severity, and profile of neuropsychological deficits in ARSACS using the cerebellar ...
Julie Fortin, Matthis Synofzik, Élyse‐Anne Pedneault‐Tremblay, Dominik Hermle, Andreas Thieme, Dagmar Timmann, Roberta La Piana, Bernard Brais, Justine Dolbec, Isabelle Côté, Cynthia Gagnon, Andreas Traschütz   +11 more
wiley   +1 more source

Diagnostic Value of Bedside Eye Movement Examination in Movement Disorders

Movement Disorders Clinical Practice, EarlyView.
Eloísa Bittencurt Thomaz de Assis, Paula Martínez Ruiz, Cristina Acosta Gudiel, Hüseyin Nezih Özdemir, Diego Kaski   +4 more
wiley   +1 more source

Altered Cerebrospinal Fluid Tryptophan–Kynurenine Pathway Metabolism in Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background Alterations in tryptophan–kynurenine (TRP‐KYN) metabolism, which is associated with neuroinflammation, remain unclear in multiple system atrophy (MSA). Objective The aim was to investigate cerebrospinal fluid (CSF) TRP metabolites in MSA and their associations with other biomarkers.
Ryunosuke Nagao, Kazuya Kawabata, Yasuaki Mizutani, Sayuri Shima, Akihiro Ueda, Mizuki Ito, Yasuhiro Maeda, Akihiro Mouri, Hirohisa Watanabe   +8 more
wiley   +1 more source

Posterior Reversible Encephalopathy Syndrome in a Patient with Multiple System Atrophy and Multiple Myeloma

Movement Disorders Clinical Practice, EarlyView.
Jackson Mitzner, Jenny Linnoila, Yanal Shaheen, Abby L. Olsen   +3 more
wiley   +1 more source