Results 11 to 20 of about 11,861 (217)

Nucleic Acid-Based Therapeutic Approach for Spinal and Bulbar Muscular Atrophy and Related Neurological Disorders. [PDF]

Genes (Basel), 2022
Hirunagi T, Sahashi K, Meilleur KG, Katsuno M.   +3 more
europepmc   +3 more sources

The Combined Efficacy of a Two-Year Period of Cybernic Treatment With a Wearable Cyborg Hybrid-Assistive Limb and Leuprorelin Therapy in a Patient With Spinal and Bulbar Muscular Atrophy: A Case Report. [PDF]

Front Neurol, 2022
Nakatsuji H, Ikeda T, Hashizume A, Katsuno M, Sobue G, Nakajima T.   +5 more
europepmc   +3 more sources

A Psychometric Evaluation of Maximum Phonation Time and S / Z Ratio as Pragmatic Outcome Measures of Bulbar Function in Adults With Spinal Muscular Atrophy [PDF]

Muscle &Nerve, Volume 73, Issue 2, Page 297-303, February 2026.
ABSTRACT Introduction/Aims A pragmatic evaluation of bulbar function among adults with spinal muscular atrophy (awSMA) is needed, requiring the validation of a low‐cost, feasible outcome measure (OM). Maximum phonation time (MPT) and S/Z ratio (S/Z) are potential low‐cost OMs for bulbar function. This study aimed to evaluate the psychometric properties
Jeremy Slayter, Lauren Casey, Dick Drost, Shane McCullum, Anne Christie, Colleen O’Connell   +5 more
openalex   +2 more sources

Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Eur J Neurol
Kawase T, Yamada S, Kishimoto Y, Ito D, Komori S, Kondo A, Iida M, Kawashima I, Takegami Y, Hashizume A, Imagama S, Katsuno M.   +11 more
europepmc   +3 more sources

Hearing Function in Spinal and Bulbar Muscular Atrophy (SBMA): A Case Control Study From a Tertiary Referral Center. [PDF]

Eur J Neurol
Blasi L, Franz L, Romito A, Fortuna A, Minicuci GM, Bebeti A, Paredi F, Ragona RM, Pennuto M, de Filippis C, Marioni G, Sorarù G.   +11 more
europepmc   +3 more sources

Dynamic Muscle Ultrasound as a Non‐Invasive Method to Detect Contraction Fasciculations: Case Study of a Patient With Spinal‐Bulbar Muscular Atrophy [PDF]

Muscle &Nerve, Volume 73, Issue 1, Page 103-105, January 2026.
Keiichi Hokkoku, Takashi Chiba, Yuki Hatanaka, Shunsuke Kobayashi, M. Sonoo   +4 more
openalex   +2 more sources

Spinal and Bulbar Muscular Atrophy, X-linked 1 [PDF]

, 2020
National Cancer Institute
openalex   +2 more sources

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. [PDF]

Sci Adv, 2021
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C.   +23 more
europepmc   +2 more sources

Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study. [PDF]

BMJ Neurol Open
Nara T, Shibuya K, Ikeda S, Kuroiwa R, Otani R, Ogushi M, Suichi T, Shiko Y, Takahashi K, Misawa S, Murata A, Kuwabara S.   +11 more
europepmc   +3 more sources

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Christopher, Grunseich, Kenneth H, Fischbeck   +1 more
openaire   +2 more sources