Results 211 to 220 of about 66,395 (336)

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14‐Associated Neurodegeneration: A Case Report and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Rebecca Lindsay, Sangeetha Yoganathan, Wei Kang Lim, Pradeep Krishnan, Asif Doja, Sunita Venkateswaran, Julie Richer, Sara Breitbart, Nicole S.Y. Liang, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +11 more
wiley   +1 more source

Risk factors for silent cerebral infarction in immune‐mediated thrombotic thrombocytopenic survivors

British Journal of Haematology, EarlyView.
Summary Immune‐mediated thrombotic thrombocytopenic purpura (iTTP) survivors are predisposed to silent cerebral infarctions (SCI) defined as radiological evidence of brain ischaemia without focal symptoms. This study examined risk factors associated with SCI burden in iTTP survivors during remission.
Binish Javed, Jia Yu, Jenna Brown, Jay Meade, Gloria F. Gerber, Michael B. Streiff, Peggy Kraus, Samuel Merrill, Allyson M. Pishko, Jennifer Yui, Rakhi P. Naik, Robert A. Brodsky, Doris D. Lin, Shruti Chaturvedi   +13 more
wiley   +1 more source

Incidentally discovered developmental venous anomaly with an associated white matter changes in a 7-year-old girl: a case report and literature review. [PDF]

J Surg Case Rep
AlRaddadi KK, Alraddadi KK, Koshak N, Koshak N, Alshaya W, Alshaya W.   +5 more
europepmc   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Cerebral cortical T2 hyperintensity

, 2021
Yahya Baba, Rohit Sharma, Bálint Botz
openaire   +1 more source

Free water as a potential mediator linking basal ganglia peri-vascular spaces to white matter hyperintensities in cerebral small vessel disease [PDF]

Weixing Feng, Xinjun Lei, Xinbin Wang, Shangcheng Xu, Zhihua Xu   +4 more
openalex   +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

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Deep Learning-Based Regional White Matter Hyperintensity Mapping as a Robust Biomarker for Alzheimer's Disease

Machnio, Julia, Nielsen, Mads, Ghazi, Mostafa Mehdipour   +2 more
openalex   +1 more source

The Aging Brain: Are two pathologies worse than one? White matter hyperintensities, beta-amyloid, and cognition in normal elderly [PDF]

, 2010
Susan Onami
openalex   +1 more source