Results 161 to 170 of about 133,752 (286)

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

A case report of CLIPPERS involving brainstem, cerebellum, white matter of cerebral hemisphere, spinal cord and corpus callosum. [PDF]

Radiol Case Rep
Shen HY, Shi YW, Yu RZ, Wu WJ, Yu Cao W, Wang CP, Fan XJ.   +6 more
europepmc   +1 more source

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

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

Clinical Presentation of Agenesis of Corpus Callosum Among Children in a Single Tertiary Care Center in Riyadh, Saudi Arabia. [PDF]

Cureus
Altwaijri W, Bajaman RS, Almutairi MG, Alomary AA, Alzuhair SK, Alhudaif LO.   +5 more
europepmc   +1 more source

Conditional Modeling of GNAO1 Disorder Dissociates Circuit Specific Contributions to Pathology and Rationalizes Ameliorative Strategies

Movement Disorders, EarlyView.
Abstract Background Neurodevelopmental disorders feature various symptoms that frequently include seizures and motor manifestations, but their attribution to disruptions of specific circuits and molecular alterations is notoriously hard to establish, which limits therapeutic interventions.
Gloria Brunori, Stefano Zucca, Colten K. Lankford, Yi‐Zhi Wang, Marianna Franco, Nina A. Alekseeva, Sevinj Ahmedova, Han My Van, Jeffrey N. Savas, Kirill A. Martemyanov   +9 more
wiley   +1 more source

Mapping early corpus callosum development to identify neurodevelopmental risk. [PDF]

Dev Cogn Neurosci
Mao B, Zhang H, Wang H, Yang Z.
europepmc   +1 more source

Quantitative Comparison of Multi‐Echo Spin Echo and Multi‐Echo Gradient Echo Myelin Water Imaging in a Panel of Mbp Enhancer‐Edited Mouse Lines

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To evaluate the correspondence between myelin water fraction (MWF) estimates derived from multi‐echo spin echo (MESE) and multi‐echo gradient echo (MGRE) imaging in fixed mouse brain tissue, using a panel of myelin basic protein (Mbp) enhancer‐edited mouse lines exhibiting graded hypomyelination.
Vladimir Grouza, Yawen Shi, Sean Goldfarb, Klaudia M. Bednarz, Isabella Gomez, Marius Tuznik, Zhe Wu, Hooman Bagheri, Katherine A. Siminovitch, Alan C. Peterson, Thomas Stroh, David A. Rudko   +11 more
wiley   +1 more source

Alien Hand Syndrome Secondary to Acute Anterior Corpus Callosum Infarction Despite Dual Antiplatelet Therapy: A Case Report. [PDF]

Cureus
Kaleel I, Kaleel A.
europepmc   +1 more source

Assessment of Optimal T1/T2‐Weighted Combinations for Myelin Sensitivity: Effects of Echo Time and Exponents

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The aim of this study is to improve the traditional T1‐weighted (T1w) over T2‐weighted (T2w) ratio as a proxy for myelin by investigating the optimal T2w TE and combination of exponent‐weighted T1w and T2w images (T1wx1/T2wx2$$ \mathrm{T}1{\mathrm{w}}^{x_1}/\mathrm{T}2{\mathrm{w}}^{x_2} $$).
Simone Monachino, Gerhard S. Drenthen, Lis J. M. van den Boogaard, Marcel Breeuwer, Catarina Dinis Fernandes, Oliver H. H. Gerlach, Svitlana Zinger, Jacobus F. A. Jansen   +7 more
wiley   +1 more source