Results 141 to 150 of about 685,470 (326)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

A tribute to Wartenberg’s refined neurological examination

Arquivos de Neuro-Psiquiatria
Robert Wartenberg was a renowned 20th century neurologist who contributed greatly to our understanding of the neurological examination. This article aims to illustrate his legacy by highlighting five seminal neurological signs.
Péricles Maranhão-Filho, Renato Gonik
doaj   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Use of video-electroencephalography as a first-line examination in veterinary neurology: development and standardization of electroencephalography in unsedated dogs and cats [PDF]

Elsa Lyon, Hervé Pochat, Stéphane Blot, Thibaut Troupel, Nicolas Van Caenegem, S. Besnard, Catherine Escriou   +6 more
openalex   +1 more source

Neurological Examination of the Newborn--A Routine for All [PDF]

, 1986
J G Bissenden
openalex   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Peculiar Neurological Examination Secondary to Persistent Primitive Hypoglossal Artery. [PDF]

Cureus, 2023
Hamzoian H, Harris B, Ditamo M, Chaudhary S.   +3 more
europepmc   +1 more source

Introduction to Clinical Examination for Physical Therapy Treatment: V. Neurological Disorders.

, 1997
Mari KUNII, Mieko Kurosawa
openalex   +2 more sources

A Neurologic Examination for Anesthesiologists [PDF]

, 2019
Edith R. Reshef, Nicholas D. Schiff, Emery N. Brown   +2 more
openalex   +1 more source

Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer, Frauke Stascheit, Maximilian Mönch, Paolo Doksani, Carla Dusemund, Meret Herdick, Philipp Mergenthaler, Maike Stein, Amani Suboh, Jutta Schröder‐Braunstein, Guido Wabnitz, Jan D. Lünemann, Sophie Lehnerer, Sarah Hoffmann, Andreas Meisel   +14 more
wiley   +1 more source