Results 181 to 190 of about 37,969 (302)

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1 [PDF]

, 2015
Guido Rubboli, Pierangelo Veggiotti, Antonella Pini, Angela Berardinelli, Gaetano Cantalupo, Enrico Bertini, Francesco Danilo Tiziano, Adele D’Amico, Elena Piazza, Emanuela Abiusi, Stefania Fiori, Elena Pasini, Francesca Darra, Giuseppe Gobbi, Roberto Michelucci   +14 more
openalex   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Acute Gastric Dilatation in a 16-Year-Old Patient With Duchenne Muscular Dystrophy: A Case Report and an Updated Literature Review. [PDF]

Cureus
Novoa Garnica C, Ruíz Hernandez CJ, Montells S, Arias MH, Martin Carpi FJ.   +4 more
europepmc   +1 more source

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

, 2014
Christine Albertyn, Mark Sonderup, Alan Bryer, Anne V. Corrigall, Peter N. Meissner, Jeannine M. Heckmann   +5 more
openalex   +1 more source

Early‐stage health technology assessment of a curative gene therapy for multiple sclerosis

British Journal of Clinical Pharmacology, EarlyView.
Aims Multiple sclerosis (MS) is associated with significant early morbidity, reduced life expectancy and substantial healthcare and societal costs. The primary objective of this study is to assess the early cost‐effectiveness potential of a novel gene therapy, IMMUTOL, for MS compared with current high‐efficacy treatment sequences.
Attila Imre, Balázs Nagy, Rok Hren
wiley   +1 more source

Electromyographic Analysis in Spinal Progressive Muscular Atrophy, Juvenile Unilateral Muscular Atrophy, Neural Progressive Muscular Atrophy and Myeloradiculoneuritis

Electromyographic Analysis in Spinal Progressive Muscular Atrophy, Juvenile Unilateral Muscular Atrophy, Neural Progressive Muscular Atrophy and Myeloradiculoneuritis
Recently, as diagnostic aids of neurological science, not only electromyography but also other techniques such as motor nerve conduction velocity, evoked potentials and strength-duration curve have been performed. In this paper, the first, the standard value of conduction velocities and the critical value of reduced conduction velocities in pathologic ...
openaire  

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Hirayama disease: a rare cause of cervical myelopathy. [PDF]

Oxf Med Case Reports
Khan A, Duhan A, Mangla R, Mangla M, Al-Badri SG.   +4 more
europepmc   +1 more source

Neuritic Type of Progressive Muscular Atrophy (Charcot-Marie-Tooth)

, 1917
E. D. Adrian
openalex   +2 more sources

Cannabinoids and drug–drug pharmacokinetic interactions: Deciphering the risks

British Journal of Clinical Pharmacology, EarlyView.
The relationship between cannabinoids and mental health has become a major focus of scientific inquiry and public discourse. Cannabinoids are diverse chemical compounds from the Cannabis species that have been explored for their therapeutic applications in treating chronic pain, psychiatric and neurological conditions, such as depression, schizophrenia,
Paraskevi Papakyriakopoulou, Georgia Valsami, Georgios Ismailos   +2 more
wiley   +1 more source