[…] dystrophy-dystroglycanopathy PPIB Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 PYCR1 Cutis laxa AR type 2B RAPSN Myasthenic syndrome, congenital RYR1 Central core disease, Centronuclear myopathy, Malignant hyperthermia [genda.com.ar]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy ACP5 Spondyloenchondrodysplasia [genda.com.ar]

Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. [ghr.nlm.nih.gov]

Destructive brain lesions Ocular * Chorioretinal atrophy * Optic nerve abnormalities * Maculopathies * Vascular abnormalities Musculoskeletal * Arthrogryposis * Craniofacial abnormalities (craniosynostosis) * Clubfoot * Acetabular dysplasia Genitourinary * Cryptorchidism [medical-dictionary.thefreedictionary.com]

Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. {ECO:0000269 PubMed:26732629}. [genecards.org]

She has a special interest in neonatal stroke and brain plasticity. Her work has been published in 400 publications. [books.google.com]

Saundersfoot Medical Centre Skewen Medical Centre South East Wales Cancer Network South West Wales Cancer Network Speech & Language Therapists (Wales) - Autism St Mark's Dee View Surgery St Thomas and West Cross Surgeries St Thomas Surgery (Pembrokeshire) Stroke [wales.nhs.uk]

This causes problems with functioning in the body much like how the effects of a stroke can affect the brain. The impairments that are seen as a result of PMG depend on what part of the brain is involved and how severe the deformity is. [pmgawareness.org]

Funding Sources This work was supported by the Intramural Research Program of the National Institutes of Health (National Institute of Neurological Disorders and Stroke; project No.: NS003154). [karger.com]

[…] imaging at 7T can visualize small anatomic structures not previously appreciated at lower fields. 25 – 28 Because 7T MR imaging has already provided diagnostic benefits in different pathologies 28 such as multiple sclerosis, 29 cerebrovascular diseases (strokes [ajnr.org]

There is diffuse disorganization of the cortical plate with massive overmigration of cells within the meningeal spaces (I). From: Tubulinopathies Overview Copyright 1993-2019, University of Washington, Seattle. [ncbi.nlm.nih.gov]

Third, focal neuroglial ectopias into the meningeal spaces are often observed, indicating that tubulinopathies result from both abnormal lamination and overmigration through a defective glia limitans. [link.springer.com]

A female infant developed epilepsy on the day of birth, exhibiting epileptic spasms, generalized tonic-clonic seizures, and eye-deviating seizures. She had a history of clusters of tonic seizures. [ncbi.nlm.nih.gov]

At age 30 years, she had her first generalized, tonic-clonic seizure. She was started on 750 mg of levetiracetam 2 times daily for seizure prophylaxis, and remains seizure free. [karger.com]