Results 221 to 230 of about 304,862 (304)

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel. [PDF]

Orphanet J Rare Dis
Ben-David M, Greenbaum L, Nikitn V, Zvulunov A, Charas H, Divon N, Barkan T, Chorin O, Reznik-Wolf H, Zloto O, Benyamini L, Shelly S, Dori A.   +12 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

When pullulanase needs a little push: MyoAAV capsids enhance gene therapy for GSD IIIa

Molecular Therapy: Methods & Clinical Development
Sree Venigalla, Christina A. Pacak
doaj   +1 more source

An Unbiased Drug Screen in a Drosophila Model of <i>LMNA</i>-Muscular Dystrophy Identifies Calcium Channel Blockers as Potential Treatments. [PDF]

Int J Mol Sci
Mohar NP, Powers BA, Hinz BE, Bock AR, McCoy-Munger H, Darr Z, Shumaker MW, Wemmie AT, Saxena A, Wallrath LL.   +9 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Hypophosphatasia and collagen VI-related muscular dystrophy presenting with gait disturbance and recurrent fractures. [PDF]

JCEM Case Rep
Im YJ, Sohn YB, Choi YJ, Jang MA, Sung DH, Chung YS.   +5 more
europepmc   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, Volume 100, Issue 4, Page 850-866, October 2026.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Fat Embolism Syndrome Following Elective Orthopedic Surgery in a Patient With Duchenne Muscular Dystrophy. [PDF]

Cureus
Hassan K, Desai R, Shahin E, Shapiro P, Burshtain O, Dragone D.   +5 more
europepmc   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

Annals of Neurology, Volume 100, Issue 4, Page 793-807, October 2026.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua, Anthony T. Reder, Evanthia Bernitsas, Nancy L. Monson, Timothy Vartanian, Gregory F. Wu, Mansoor Saleh, Annette Okai, Ahmed Z. Obeidat, Dilraj Sokhi, Rikisha Parekh, Jinglan Pei, Christopher Harp, David Clayton, Ibraheem Abioye, Mitzi J. Williams, for the CHIMES Study Group   +16 more
wiley   +1 more source

Optical coherence tomography findings in Duchenne muscular dystrophy. [PDF]

BMC Ophthalmol
Yöyler G, Adıyeke SK.
europepmc   +1 more source