Results 41 to 50 of about 1,009 (152)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique “Heart or V” Appearance Sign: Case Report and Review of the Literature

Frontiers in Neurology, 2017
Wernekink commissure syndrome secondary to caudal paramedian midbrain infarction (CPMI) is a rare midbrain syndrome involving the decussation of the superior cerebellar peduncle in the caudal paramedian midbrain tegmentum. The central characteristics are
Chenguang Zhou, Yuanhong He, Zhiwen Chao, Yinghui Zhu, Peng Wang, Xingping Wang, Shanshan Liu, Wei Han, Jianping Wang   +8 more
doaj   +1 more source

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism

Annals of Neurology, Volume 98, Issue 5, Page 932-950, November 2025.
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating variants in the autophagy gene EPG5 have been associated with Vici syndrome, a severe early‐onset neurodevelopmental
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Ay Lin Kho, Neil J Ingham, Karen P Steel, Preethi Sheshadri, Franciska Baur, Lea Hentrich, Birgit Gerisch, Mina Zamani, Cesar Alves, Ata Siddiqui, Haidar S Dafsari, Mehri Salari, Anthony E. Lang, Michael Harris, Alice Abdelaleem, Saeid Sadeghian, Reza Azizimalamiri, Hamid Galehdari, Gholamreza Shariati, Alireza Sedaghat, Jawaher Zeighami, Daniel Calame, Dana Marafi, Ruizhi Duan, Adrian Boehnke, Gary D. Clark, Jill A. Rosenfeld, Carrie A. Mohila, Dora Steel, Saurabh Chopra, Suvasini Sharma, Nicolai Kohlschmidt, Steffi Patzer, Afshin Saffari, Darius Ebrahimi‐Fakhari, Büşra Eser Çavdartepe, Irene J Chang, Erika Beckman, Renate Peters, Andrew Paul Fennell, Bernice Lo, Luisa Averdunk, Felix Distelmaier, Martina Baethmann, Frances Elmslie, Kairit Joost, Sheela Nampoothiri, Dhanya Yesodharan, Hanna Mandel, Amy Kimball, Antonie D. Kline, Cyril Mignot, Boris Keren, Vincent Laugel, Katrin Õunap, Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal, Saskia Koene, Sumit Verma, Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz, Gehad ElGhazali, Lauren Mattas, Mohammad Miryounesi, Farzad Hashemi‐Gorji, Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeideh Kavousi, Arveen Kamath, Sandeep Jayawant, Russell Saneto, Nourelhoda A. Haridy, Pinar Ozkan Kart, Ali Cansu, Madeleine Joubert, Claire Beneteau, Kyra E. Stuurman, Martina Wilke, Tahsin Stefan Barakat, Homa Tajsharghi, Annarita Scardamaglia, Sadeq Vallian, Semra Hız, Ali Shoeibi, Reza Boostani, Narges Hashemi, Meisam Babaei, Norah Saleh Alsaleh, Julie Porter, Tania Attié‐Bitach, Pauline Marzin, Dorota Wicher, Jessica I. Gold, Elisabeth Schuler, Amna Kashgari, Rakan F. Alanazi, Wafaa Eyaid, Marc Engelen, Mirjam Langeveld, Burkhard Stüve, Yun Li, Gökhan Yigit, Bernd Wollnik, Mariana H.G Monje, Dimitri Krainc, Niccolò E. Mencacci, Somayeh Bakhtiari, Michael Kruer, Emanuela Argilli, Elliott Sherr, Yalda Jamshidi, Ehsan Ghayoor Karimiani, Yiu Wing Sunny Cheung, Ivan Karin, Giovanni Zifarelli, Peter Bauer, Wendy K Chung, James R. Lupski, Manju A. Kurian, Jörg Dötsch, Jürgen‐Christoph von Kleist‐Retzow, Thomas Klopstock, Matias Wagner, Calvin Yip, Andreas Roos, Rita Carsetti, Carlo Dionisi‐Vici, Mathias Gautel, Michael R Duchen, Adam Antebi, Henry Houlden, Manolis Fanto, Heinz Jungbluth   +140 more
wiley   +1 more source

Association between Perceived Dysphagia Symptoms and Swallowing Physiology in Parkinson's Disease

Movement Disorders Clinical Practice, Volume 12, Issue 10, Page 1571-1581, October 2025.
Abstract Background Swallowing disorders are prevalent in Parkinson's disease (PD). Swallowing assessment often relies on patient‐reported outcome measures (PROMs). Although PROMs and physiologic swallowing measures correlate with disease severity, the relationship between PROMs and physiologic swallowing impairments is unclear.
Rabab Rangwala, Mariana Mendes Bahia, Jing Song, Danny Bega, Bonnie Martin‐Harris   +4 more
wiley   +1 more source

EMG-guided salpingopharyngeus Botox® injection for palatal myoclonus

B-ENT, 2013
EMG-guided salpingopharyngeus Botox® injection for palatal myoclonus. Palatal myoclonus (PM) is a rare neurological disorder characterized by involuntary movements of the soft palate musculature causing objective clicking tinnitus.
T. K. Wan, J. T. Chen, P. C. Wang
doaj   +2 more sources

Imaging Features of Hypertrophic Olivary Degeneration

Journal of the Belgian Society of Radiology, 2016
Hypertrophic olivary degeneration (HOD) is a unique form of transneuronal degeneration caused by a disruption of the dentato-rubro-olivary pathway, also known as the triangle of Guillain-Mollaret.
Ruth Van Eetvelde, M Lemmerling, T Backaert, N Favoreel, B Geerts, C Sommeling, D Hemelsoet, S Dekeyzer   +7 more
doaj   +1 more source

Wernekink commissure syndrome: clinico-radiological criteria

Nepal Journal of Neuroscience, 2020
Introduction: Wernekink commissure syndrome is a rare midbrain syndrome selectively affecting the Wernekink commissure, characterized by bilateral cerebellar ataxia and eye movement disorders, especially internuclear ophthalmoplegia. This article aims at
Sheetal S, Amith Kumar S, Reji Thomas
doaj   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Hypertrophic olivary degeneration secondary to a Guillain Mollaret triangle cavernoma: Two case report

Radiology Case Reports
Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration. It is caused by a damage at the Guillain-Mollaret triangle (GMT), which is defined by three anatomical structures: the dentate nucleus, the red nucleus, and the ...
Salma Marrakchi, Ihssan Hadj Hsain, Yousra Guelzim, Najwa El Kettani Ech-Cherif, Meriem Fikri, Mohamed Jiddane, Firdaous Touarsa   +6 more
doaj   +1 more source

Natural history of SGCE‐associated myoclonus dystonia in children and adolescents

Developmental Medicine &Child Neurology, Volume 67, Issue 6, Page 740-749, June 2025.
Children and adolescents with SGCE‐associated myoclonus dystonia showed a progression of motor symptoms during a mean follow‐up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing.
Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín, Julia Ferrero‐Turrión, David Gómez‐Andrés, Anna Marcé‐Grau, Lucía Dougherty‐de Miguel, Victoria González, Antonio Moreno‐Galdó, Marina A. J. Tijssen, Belén Pérez‐Dueñas   +11 more
wiley   +1 more source