Results 61 to 70 of about 66,364 (302)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Mitochondrial Myopathy with DNA Depletion

Pediatric Neurology Briefs, 1992
Five children with mitochondrial myopathy associated with depletion of muscle mtDNA are reported from the Departments of Neurology and Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY and other centers in ...
J Gordon Millichap
doaj   +1 more source

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants

The Turkish Journal of Pediatrics, 2022
Background. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin μ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4.
Serdar Pekuz, Yiğithan Güzin, Serdar Sarıtaş, Özgür Kırbıyık, Aycan Ünalp, Ünsal Yılmaz   +5 more
doaj   +1 more source

Prader-Willi syndrome: are there population differences? [PDF]

, 1982
A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome.
Butler, Merlin G., Meaney, F. John, Weaver, David D.   +2 more
core  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Occupational and Physical Therapy Interventions for Young Children with Developmental Central Hypotonia: An Overview of Systematic Reviews

Disabilities
Developmental central hypotonia describes children with decreased muscle tone due to non-progressive central damage, and includes many genetic conditions (e.g., Down, Prader–Willi or Joubert syndromes etc.), cerebral palsy with hypotonia as the main ...
Ginny S. Paleg, Álvaro Hidalgo Robles, Pragashnie Govender, Roslyn W. Livingstone   +3 more
doaj   +1 more source

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

Frontiers in Genetics, 2017
Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary ...
Fátima Lopes, Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel, Patrícia Maciel   +6 more
doaj   +1 more source

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

Disease Models & Mechanisms, 2022
Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.
William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen   +4 more
doaj   +1 more source

Tibial Periosteum For The Surgical Perforation [PDF]

, 2016
Purpose: Report a successful case of scleral perforation repair, refractive to treatment with bank-scleral graft, using pretibial periosteum graft patch.
Mateo A, Rodrigo MJ, , Abecia E, Idoipe M, Hualde A, Satue M   +5 more
core   +1 more source

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

Annals of Clinical and Translational Neurology, EarlyView.
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