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The following terms were not found in PubMed: encephalopathy-hearing, loss-pons, hypoplasia-brain
Page 1
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Na JH, Lee YM. Na JH, et al. Acta Neurol Scand. 2022 Apr;145(4):414-422. doi: 10.1111/ane.13566. Epub 2021 Dec 7. Acta Neurol Scand. 2022. PMID: 34877647
We reviewed each patient's clinical findings, including general characteristics, biochemical parameters, brain MR images, muscle biopsy results, and heteroplasmic mutant load over a long-term follow-up period. RESULTS: MT-ATP6-associated LS was of predominantly early on …
We reviewed each patient's clinical findings, including general characteristics, biochemical parameters, brain MR images, muscle biopsy resu …
Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management.
Seltman RE, Matthews BR. Seltman RE, et al. CNS Drugs. 2012 Oct 1;26(10):841-70. doi: 10.2165/11640070-000000000-00000. CNS Drugs. 2012. PMID: 22950490 Review.
FTLD spectrum disorders collectively represent a leading cause of early-onset dementia, with most cases presenting between 45 and 64 years of age. ...Additionally, there is a significant clinical, pathological and genetic overlap between FTD and motor neuron dise …
FTLD spectrum disorders collectively represent a leading cause of early-onset dementia, with most cases presenting between 45 …
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes alpha-II spectrin. ...From these data we suggest that SPTAN1 encephalopathy is a distinct clinical syndrome owing to specif …
Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, whic …
Treatment of congenital thyroid dysfunction: Achievements and challenges.
Krude H, Kühnen P, Biebermann H. Krude H, et al. Best Pract Res Clin Endocrinol Metab. 2015 Jun;29(3):399-413. doi: 10.1016/j.beem.2015.04.004. Epub 2015 Apr 26. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 26051299 Review.
In the last decades huge achievements resulted in a normal development of these children based on newborn screening programs that enable an early onset of a high dose LT4-treatment. Further progress will be necessary to further tailor an individualized thyroi …
In the last decades huge achievements resulted in a normal development of these children based on newborn screening programs that enable an …
Differential Diagnosis of Behavioral Variant and Semantic Variant of Frontotemporal Dementia Using Visual Rating Scales.
Manouvelou S, Koutoulidis V, Tsougos I, Tolia M, Kyrgias G, Anyfantakis G, Moulopoulos LA, Gouliamos A, Papageorgiou S. Manouvelou S, et al. Curr Med Imaging. 2020;16(4):444-451. doi: 10.2174/1573405615666190225154834. Curr Med Imaging. 2020. PMID: 32410545
BACKGROUND: Frontotemporal dementia (FTD) represents the second most frequent early onset of dementia in people younger than 65 years. The main syndromes encompassed by the term FTD are behavioral variant of Frontotemporal dementia (bvFTD), non-fluent variant …
BACKGROUND: Frontotemporal dementia (FTD) represents the second most frequent early onset of dementia in people younger than 6 …
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome; Vialettes B. Cano A, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12. doi: 10.1002/ajmg.a.31809. Am J Med Genet A. 2007. PMID: 17568405
Mutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the …
Mutations in the WFS1 gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early on …
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M. Anheim M, et al. Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14. Neurogenetics. 2010. PMID: 19440741

Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich ARCA compared to all other patients (p < 0.0001 and p = 0.0003, respectively). ...Patients with no identified mutation have more often a pu

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Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich AR …
The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy.
Masullo C, Daniele A, Fazio VM, Seripa D, Gravina C, Filippini V, Grossi D, Fragassi N, Nichelli P, Leone M, Gainotti G. Masullo C, et al. Neurosci Lett. 2001 May 4;303(2):87-90. doi: 10.1016/s0304-3940(01)01673-1. Neurosci Lett. 2001. PMID: 11311499
The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patien …
The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, …