Results 101 to 110 of about 25,100 (235)

Late Presenting Central Pontine Myelinolysis Post- tonsillectomy in a Child: Case Report [PDF]

Pediatric Sciences Journal
Central pontine myelinolysis (CPM) is a notorious grave complication of rapid correction of hyponatremia. CPM is a noninflammatory demyelination. It presents clinically with variable degrees of loss of coordination, unconsciousness, blurred vision ...
Magd Ahmed Kotb, Menat-allah Mahmoud Elzabet, Walaa Elnaggar   +2 more
doaj   +1 more source

Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) [PDF]

, 1977
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA)
Myer, Edwin C., Nance, Walter E., Wilkins, Louise E., Winter, Robin M.   +3 more
core   +1 more source

Role of PET and SPECT in the study of Amyotrophic Lateral Sclerosis [PDF]

, 2014
Amyotrophic lateral sclerosis has been defined as a "heterogeneous group of neurodegenerative syndromes characterized by progressive muscle paralysis caused by the degeneration of motor neurons allocated in primary motor cortex, brainstem, and spinal ...
Cistaro, A, Cuccurullo, V, Mansi, L, Pagani, M, Quartuccio, N, Valentini, Mc   +5 more
core   +4 more sources

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 696-705, May 2026.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Predicting disease progression in progressive supranuclear palsy in multicenter clinical trials [PDF]

, 2016
INTRODUCTION: Clinical and MRI measurements can track disease progression in PSP, but many have not been extensively evaluated in multicenter clinical trials.
AL-108-231 Investigators, ., Bang, J, Boxer, AL, Doody, RS, Gold, M, Grossman, M, Knopman, DS, Lang, AE, Lees, A, Lobach, IV, Miller, BL, Morimoto, BH, Schneider, LS   +12 more
core   +1 more source

A Personal Exploration of Oral Health in Amyotrophic Lateral Sclerosis (ALS) Through the Eyes of a Multifaceted Authority

Journal of Oral Rehabilitation, Volume 53, Issue 5, Page 1059-1064, May 2026.
This study resulted in agendas to improve oral health care, research, and education, advocating for a shift in ALS oral health care: from neglect to proactive integration. ABSTRACT Background and Objective Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that impairs motor function, including oral musculature, complicating
Merel C. Verhoeff, Maurits K. A. van Selms, Frank Lobbezoo   +2 more
wiley   +1 more source

The clinical spectrum of sporadic and familial forms of frontotemporal dementia [PDF]

, 2016
The term frontotemporal dementia (FTD) describes a clinically, genetically and pathologically diverse group of neurodegenerative disorders. Symptoms of FTD can present in individuals in their twenties through to their nineties, but the mean age at onset ...
Rohrer, JD, Woollacott, IO
core   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 834-839, April 2026.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Glial pathology networks reveal early olfactory vulnerability in post mortem human Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION The olfactory system is an early target in Alzheimer's disease (AD), yet regional glial pathology interactions remain poorly defined. We examined how glial activation and pathological burden differ between the olfactory cortex (OC) and olfactory bulb (OB) across disease stages.
Da Hae Jung, Eunji Park, Hyeon Chang Ju, Cheil Moon, Ali Jahanshahi   +4 more
wiley   +1 more source