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Quoted phrase not found in phrase index: "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
Page 1
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. ...Some patients had …
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders character …
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M. Georgiou M, et al. Invest Ophthalmol Vis Sci. 2019 Dec 2;60(15):5112-5123. doi: 10.1167/iovs.19-27761. Invest Ophthalmol Vis Sci. 2019. PMID: 31826238 Free PMC article.
PURPOSE: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. METHODS: Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus …
PURPOSE: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. METHODS: Eight subject …
Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants.
Catsman-Berrevoets CE, Koudijs SM, Buijze MSJ, de Laat PCJ, Pasmans SGMA, Dremmen MHG. Catsman-Berrevoets CE, et al. Eur J Paediatr Neurol. 2022 May;38:66-72. doi: 10.1016/j.ejpn.2022.04.002. Epub 2022 Apr 13. Eur J Paediatr Neurol. 2022. PMID: 35461064 Free article.
BACKGROUND: Patients with Sturge-Weber syndrome type 1 (SWS1) have a port-wine birthmark (PWB) as cutaneous hallmark. Up to 35% of neonates with a high risk PWB develop SWS1. Clinical manifestations are severe and often progressive. Especially early onset …
BACKGROUND: Patients with Sturge-Weber syndrome type 1 (SWS1) have a port-wine birthmark (PWB) as cutaneous hallmark. Up to 35% of ne …
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H, Langbehn DR, Abiona A, Garrood I, Fleszar Z, Manes MA, Morley AMS, Craythorne E, Mohammed S, Henshaw T, Turner S, Naik H, Bodi I, Sarkany RPE, Fassihi H, Lehmann AR, Giunti P. Garcia-Moreno H, et al. Brain. 2023 Dec 1;146(12):5044-5059. doi: 10.1093/brain/awad266. Brain. 2023. PMID: 38040034 Free PMC article.
In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the different neurological signs and their progression differ among groups. ...Typically, the neurological disease will be preced …
In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the …
Epidemiology of early onset dementia and its clinical presentations in the province of Modena, Italy.
Chiari A, Vinceti G, Adani G, Tondelli M, Galli C, Fiondella L, Costa M, Molinari MA, Filippini T, Zamboni G, Vinceti M. Chiari A, et al. Alzheimers Dement. 2021 Jan;17(1):81-88. doi: 10.1002/alz.12177. Epub 2020 Sep 11. Alzheimers Dement. 2021. PMID: 32914938 Free article.
INTRODUCTION: Patients with early onset dementia (EOD), defined as dementia with symptom onset at age <65, frequently present with atypical syndromes. However, the epidemiology of different EOD presentations, including variants of Alzheimer's disease …
INTRODUCTION: Patients with early onset dementia (EOD), defined as dementia with symptom onset at age <65, frequently prese …
Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.
Othman BA, Ong JE, Dumitrescu AV. Othman BA, et al. Genes (Basel). 2022 Jun 2;13(6):1005. doi: 10.3390/genes13061005. Genes (Basel). 2022. PMID: 35741767 Free PMC article. Review.
A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Biallelic Optic Atrophy 1 (OPA1). ...All share an early-onset, severe ocular phenotype and systemic features, which seem to be …
A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Bialleli …
Clinical differentiation of parkinsonian syndromes: prognostic and therapeutic relevance.
Christine CW, Aminoff MJ. Christine CW, et al. Am J Med. 2004 Sep 15;117(6):412-9. doi: 10.1016/j.amjmed.2004.03.032. Am J Med. 2004. PMID: 15380498 Review.
Parkinson disease is the most common cause of parkinsonism, but other causes should always be excluded because they have a different prognosis, respond differently to medical treatment, and should not be managed by surgical means. ...Distinction between various diag …
Parkinson disease is the most common cause of parkinsonism, but other causes should always be excluded because they have a different …
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C. Viguier A, et al. Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31. Neuromuscul Disord. 2019. PMID: 30598237
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. ...A diaphragmatic palsy was diagnosed 1.5 months (p = 0. …
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized …
Early presentation of gait impairment in Wolfram Syndrome.
Pickett KA, Duncan RP, Hoekel J, Marshall B, Hershey T, Earhart GM; Washington University Wolfram Study Group. Pickett KA, et al. Orphanet J Rare Dis. 2012 Dec 8;7:92. doi: 10.1186/1750-1172-7-92. Orphanet J Rare Dis. 2012. PMID: 23217193 Free PMC article.
BACKGROUND: Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological abnormalities, Wolfram syndrome (WFS) is also associated with atypical brainstem and cerebellar find …
BACKGROUND: Classically characterized by early onset insulin-dependent diabetes mellitus, optic atrophy, deafness, diab …
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesi …
We undertook exome sequencing in three unrelated families of Caucasian, Turkish and French-Canadian ethnicities with seven affected children …
50 results