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Year Number of Results
1984 1
1987 1
1988 1
1995 1
1998 1
2000 1
2001 1
2003 1
2004 1
2007 2
2010 1
2011 1
2015 1
2020 3
2021 1
2022 2
2023 1
2024 0

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20 results

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Page 1
Genetics of the neuronal ceroid lipofuscinoses.
Peltonen L, Savukoski M, Vesa J. Peltonen L, et al. Curr Opin Genet Dev. 2000 Jun;10(3):299-305. doi: 10.1016/s0959-437x(00)00086-1. Curr Opin Genet Dev. 2000. PMID: 10826995 Review.
The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progressive psychomotor deterioration and death of neocortical neurons. Clinically, four major NCL groups have been identified: inf …
The neuronal ceroid lipofuscinoses (NCLs) are an intriguing group of inherited neurodegenerative disorders characterized by blindness, progr …
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 …
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 …
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
Nine of 42 infants exhibited progressive psychomotor deterioration associated with signs and symptoms of encephalopathy. CONCLUSION: MRI abnormalities were observed in infants treated with VGB and they appeared to be dose dependent. ...
Nine of 42 infants exhibited progressive psychomotor deterioration associated with signs and symptoms of encephalopathy. CONCL …
Hypsarrhythmia paroxysm index: A tool for early prediction of infantile spasms.
Altunel A, Sever A, Altunel EÖ. Altunel A, et al. Epilepsy Res. 2015 Mar;111:54-60. doi: 10.1016/j.eplepsyres.2015.01.005. Epub 2015 Jan 25. Epilepsy Res. 2015. PMID: 25769373
Recurrence of infantile spasms (ISs) is common subsequent to treatment with adrenocorticotropic hormone (ACTH) for West syndrome, and prolonged hypsarrhythmia results in psychomotor deterioration. The evolution to hypsarrhythmia involves conversion of prehypsarrhyth …
Recurrence of infantile spasms (ISs) is common subsequent to treatment with adrenocorticotropic hormone (ACTH) for West syndrome, and prolon …
Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood.
Saito Y, Inui T, Sakakibara T, Sugai K, Sakuma H, Sasaki M. Saito Y, et al. Epilepsy Res. 2010 Aug;90(3):248-58. doi: 10.1016/j.eplepsyres.2010.05.013. Epub 2010 Jun 26. Epilepsy Res. 2010. PMID: 20580529
Status epilepticus in AHC is linked to severe outcome with psychomotor deterioration. The variations in clinical phenotypes may imply multiple causative genes for AHC. ...
Status epilepticus in AHC is linked to severe outcome with psychomotor deterioration. The variations in clinical phenotypes ma …
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 psych …
We reviewed 71 cases reported in the literature, and compared the symptoms and signs with the findings in our patients. Psychomotor …
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry.
Maeser S, Petre BA, Ion L, Rawer S, Kohlschütter A, Santorelli FM, Simonati A, Schulz A, Przybylski M. Maeser S, et al. J Mass Spectrom. 2021 Jan;56(1):e4675. doi: 10.1002/jms.4675. Epub 2020 Dec 13. J Mass Spectrom. 2021. PMID: 33314470
Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases predominantly in childhood that are characterized by psychomotor deterioration, epilepsy, and early death of patients. The NCLs analyzed in the present study are caused by defects of the …
Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative diseases predominantly in childhood that are characterized by psyc …
Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.
Cruz-Camino H, Vázquez-Cantú M, Vázquez-Cantú DL, Santos-Guzmán J, Bandala-Jacques A, Gómez-Gutiérrez R, Cantú-Reyna C. Cruz-Camino H, et al. Am J Case Rep. 2020 May 11;21:e919463. doi: 10.12659/AJCR.919463. Am J Case Rep. 2020. PMID: 32389998 Free PMC article.
CASE REPORT Two siblings born to third-degree consanguineous and healthy parents presented a SPG4 complex phenotype characterized by progressive psychomotor deterioration, mixed seizure patterns, corneal opacity, dysostotic bones, limb spasticity with extensor plant …
CASE REPORT Two siblings born to third-degree consanguineous and healthy parents presented a SPG4 complex phenotype characterized by progres …
20 results