Results 71 to 80 of about 9,115 (202)

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

Movement Disorders, Volume 40, Issue 7, Page 1433-1441, July 2025.
Abstract Background Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.
Paula Saffie‐Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B. Anderson, Mariam Isayan, Kimberly Paquette, Sophia B. Gibson, Madison Fulcher, Abigail Miano‐Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J.P. Chaisson, Danny E. Miller, Pedro Chaná‐Cuevas, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley   +22 more
wiley   +1 more source

Dural Arteriovenous Malformations: A Review of the Literature and a Presentation of the JHN Series [PDF]

, 2010
Dural arteriovenous malformations (DAVMs), also known as dural arteriovenous fistulas, are arteriovenous shunts from a dural arterial supply to a dural venous channel, typically supplied by pachymeningeal arteries and located near a major venous sinus.1 ...
Gonzalez, L. Fernando, Jabbour, Pascal, MD, Marchan, Ed, Randazzo MD, Ciro, Rosenwasser MD, Robert H., Tjoumakaris, Stavropoula   +5 more
core   +2 more sources

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, Volume 18, Issue 6, Page 1290-1300, June 2025.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +1 more source

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]

, 2015
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E, Biscaro, A, Cama, Elona, Caporali, L, Carelli, V., La Morgia, C, Liguori, R, Magnavita, V, Monteleone, A, Rossi, R, Santarelli, Rosamaria, Scimemi, Pietro, Valentino, Ml   +12 more
core   +3 more sources

Mitochondrial myopathy with chronic progressive external ophthalmoplegia

Ceylon Medical Journal, 2011
(Index words: Electron microscopy, EMG, ECG, clinical features) DOI: http://dx.doi.org/10.4038/cmj.v47i2.3460 CMJ 2002; 47(2): 69 ...
Harsha, Gunasekera, Udaya, Ranawaka, Jagath, Wijesekera   +2 more
openaire   +2 more sources

Posterior reversible encephalopathy as the first manifestation of Bickerstaff’s brainstem encephalitis [PDF]

, 2016
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) has been associated with Guillain-Barre syndrome in rare cases. Here we report a patient in whom PRES was the presenting manifestation of Bickerstaff’s brainstem encephalitis.
Pei-Ru Chen, Shih-Pin Chen
core   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: From pathogenesis to emerging therapeutic options [PDF]

, 2017
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency.
Coo, I.F.M. (René) de, Smitt, P.S., Til, N.P. (Niek) van, van Gisbergen, M.W., Yadak, R.M.A. (Rana)   +4 more
core   +3 more sources

Chronic Progressive External Ophthalmoplegia [PDF]

Chronic progressive external ophthalmoplegia is an inherited or sporadic form of dystrophy that preferentially affects the extraocular muscles of the eye.
Pashaee, MPH, BS, Bahram
core   +1 more source

Diplopia and eye movement disorders.

, 2004
Published ...
Danchaivijitr, C, Kennard, C
core   +2 more sources

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions [PDF]

, 2016
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer.
A Bender, C Barthélémy, CT Moraes, CT Moraes, DC Wallace, DW Dong, Ea Schon, EJ Brierley, G Campbell, J Damas, J Damas, J Villarroya, J Wanagat, JB Stewart, JP Grady, K Khrapko, K Maniura-Weber, KJ Krishnan, L He, L Van Haute, L-JJC Wong, LC Greaves, M Elstner, M Sciacco, NF Cariello, NG Gokey, NR Phillips, NZ Lax, P Manoj, PF Chinnery, RW Taylor, S DiMauro, SD Taylor, SSL Chan, V Nesbitt, X Guo, Y Kraytsberg, Y Tang, Z Cao   +38 more
core   +1 more source