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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1987 1
1990 1
1995 1
1997 1
1998 2
1999 2
2000 1
2001 1
2004 1
2006 6
2007 2
2010 1
2011 1
2012 1
2014 1
2015 2
2018 1
2020 1
2021 2
2022 2
2023 1
2024 0

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31 results

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Page 1
Spectrum of mutations in fucosidosis.
Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS. Willems PJ, et al. Eur J Hum Genet. 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272. Eur J Hum Genet. 1999. PMID: 10094192 Review.
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in …
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth r …
Characteristics of very late-onset schizophrenia-like psychosis as prodromal dementia with Lewy bodies: a cross-sectional study.
Kanemoto H, Satake Y, Suehiro T, Taomoto D, Koizumi F, Sato S, Wada T, Matsunaga K, Shimosegawa E, Hashimoto M, Yoshiyama K, Ikeda M. Kanemoto H, et al. Alzheimers Res Ther. 2022 Sep 22;14(1):137. doi: 10.1186/s13195-022-01080-x. Alzheimers Res Ther. 2022. PMID: 36138485 Free PMC article.
Patients were divided into two groups based on the positive (VLOSLP+LB) and negative (VLOSLP-LB) results of the indicative biomarkers of DLB. Age, gender, cognitive battery scores, prevalence of each type of delusions and hallucinations, cerebral volume, and cerebral perfu …
Patients were divided into two groups based on the positive (VLOSLP+LB) and negative (VLOSLP-LB) results of the indicative biomarkers of DLB …
Posterior quadrant disconnection surgery for Sturge-Weber syndrome.
Sugano H, Nakanishi H, Nakajima M, Higo T, Iimura Y, Tanaka K, Hosozawa M, Niijima S, Arai H. Sugano H, et al. Epilepsia. 2014 May;55(5):683-689. doi: 10.1111/epi.12547. Epub 2014 Feb 22. Epilepsia. 2014. PMID: 24621276 Free article.
OBJECTIVE: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomotor deterioration. The majority of patients with SWS have leptomeningeal angioma located over the temporal, parietal, and occipital …
OBJECTIVE: Some patients with Sturge-Weber syndrome (SWS) need epilepsy surgery for adequate seizure control and prevention of psychomoto …
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Yousaf H, Rehmat S, Jameel M, Ibrahim R, Hashmi SN, Makhdoom EUH, Iwaszkiewicz J, Saadi SM, Tariq M, Baig SM, Toft M, Fatima A, Iqbal Z. Yousaf H, et al. Clin Genet. 2023 Sep;104(3):324-333. doi: 10.1111/cge.14386. Epub 2023 Jun 15. Clin Genet. 2023. PMID: 37317634
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM#619150) is an ultra-rare childhood-onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impaired cognition, progressive psychomotor …
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM#619150) is an ultra-rare childhood-onset autosomal …
Evaluation of the cognitive, psychomotor and pharmacokinetic profiles of rupatadine, hydroxyzine and cetirizine, in combination with alcohol, in healthy volunteers.
Barbanoj MJ, García-Gea C, Antonijoan R, Izquierdo I, Donado E, Pérez I, Solans A, Jané F. Barbanoj MJ, et al. Hum Psychopharmacol. 2006 Jan;21(1):13-26. doi: 10.1002/hup.741. Hum Psychopharmacol. 2006. PMID: 16389668 Clinical Trial.
Subjective self-reports reflect effects on metacognition after the combination of alcohol with HYD and CET i.e. the increased objective impairment observed was not subjectively perceived by the subjects. No significant differences were obtained when comparing alcohol plasm …
Subjective self-reports reflect effects on metacognition after the combination of alcohol with HYD and CET i.e. the increased objective impa …
Vigabatrin-associated brain abnormalities on MRI and other neurological symptoms in patients with West syndrome.
Reyes Valenzuela G, Crespo A, Princich J, Fassulo L, Semprino M, Gallo A, Rugilo C, Pociecha J, Calvo A, Caraballo RH. Reyes Valenzuela G, et al. Epilepsy Behav. 2022 Apr;129:108606. doi: 10.1016/j.yebeh.2022.108606. Epub 2022 Feb 15. Epilepsy Behav. 2022. PMID: 35180571
Ten of 44 (22.7%) infants were reported to have had a movement disorder (choreoathetosis, dystonic posturing). Nine of 42 infants exhibited progressive psychomotor deterioration associated with signs and symptoms of encephalopathy. CONCLUSION: MRI abnormalities were …
Ten of 44 (22.7%) infants were reported to have had a movement disorder (choreoathetosis, dystonic posturing). Nine of 42 infants exhibited …
Mongolian spots in GM1 gangliosidosis: a pictorial report.
Mishra S, Pai P, Uttarilli A, Girisha KM. Mishra S, et al. Clin Dysmorphol. 2021 Jan;30(1):6-9. doi: 10.1097/MCD.0000000000000353. Clin Dysmorphol. 2021. PMID: 33038107
GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. ...Though a known feature of GM1 gangliosidosis, considerable variation in the pre …
GM1 gangliosidosis is a lysosomal storage disorder, characterized by psychomotor deterioration, visceromegaly, facial coarsene …
Batten disease: four genes and still counting.
Mole SE. Mole SE. Neurobiol Dis. 1998 Nov;5(5):287-303. doi: 10.1006/nbdi.1998.0209. Neurobiol Dis. 1998. PMID: 10069573 Review.
They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell types. Clinical features include seizures, psychomotor deterioration, and blindness, the ages and order of onset of which dif …
They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage material in many cell …
Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.
Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A. Lebrun AH, et al. Mol Med. 2011;17(11-12):1253-61. doi: 10.2119/molmed.2010.00241. Epub 2011 Aug 18. Mol Med. 2011. PMID: 21863212 Free PMC article.
Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1-kb deletion in the CLN3 gene, their …
Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual l …
Early infantile form of neuronal ceroid lipofuscinosis. Four Dutch cases and review of the literature.
Jongen PJ, Gabreëls FJ, Stekhoven JH, Renier WO, le Coultre R, Begeer JH. Jongen PJ, et al. Clin Neurol Neurosurg. 1987;89(3):161-7. doi: 10.1016/s0303-8467(87)80049-5. Clin Neurol Neurosurg. 1987. PMID: 3311523 Review.
We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor deterioration, visual impairment and myoclonic jerks are often observed early in the disease. Eventually, every patient shows …
We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor …
31 results