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

Year Number of Results
1979 1
1983 1
1984 1
1985 1
1995 2
2001 2
2002 1
2003 2
2005 2
2006 1
2007 2
2009 1
2010 1
2011 2
2012 1
2014 3
2015 1
2018 1
2019 1
2021 2
2022 1
2023 1
2024 0

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26 results

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Page 1
Infant botulism.
Polin RA, Brown LW. Polin RA, et al. Pediatr Clin North Am. 1979 May;26(2):345-54. doi: 10.1016/s0031-3955(16)33710-5. Pediatr Clin North Am. 1979. PMID: 379778 Review.
Characteristic symptoms include constipation, lethargy, and decreased feeding. Physical examination often reveals generalized hypotonia with cranial nerve impairment. Recovery is dependent on supportive care in an intensive care setting. ...
Characteristic symptoms include constipation, lethargy, and decreased feeding. Physical examination often reveals generalized hypo …
Congenital hypomyelinating neuropathy.
Chandra SR, Kalpana D, Radhakrishnan VV, Kannan SR. Chandra SR, et al. Indian Pediatr. 2003 Nov;40(11):1084-7. Indian Pediatr. 2003. PMID: 14660842 Free article.
The weakness was predominantly distal; there was intercostal muscle weakness, generalized hypotonia and areflexia. The nerve conduction velocities were unobtainable in all the four limbs. ...
The weakness was predominantly distal; there was intercostal muscle weakness, generalized hypotonia and areflexia. The nerve c …
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA. van der Beek NA, et al. Acta Neurol Belg. 2006 Jun;106(2):82-6. Acta Neurol Belg. 2006. PMID: 16898258 Review.
The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for clinical practice different subtypes are recognized. The classic infantile form of the disease occurs in infants (shortly after birth) …
The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for …
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients.
Gül Mert G, Özcan N, Hergüner Ö, Altunbaşak Ş, Incecik F, Bişgin A, Ceylaner S. Gül Mert G, et al. Acta Neurol Belg. 2021 Apr;121(2):529-534. doi: 10.1007/s13760-019-01246-9. Epub 2019 Nov 26. Acta Neurol Belg. 2021. PMID: 31773638
The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness, and respiratory crisis were the main findings at the time of presentation. ...The treatment should be planned according to genetic tests a …
The parents of all the evaluated patients were consanguineous. Ptosis, ophthalmoplegia, generalized hypotonia, bulbar weakness …
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X, Tang B, Mao X, Peng J, Zeng S, Wang Y, Jiang H, Li N. Yin X, et al. J Hum Genet. 2018 Sep;63(9):971-980. doi: 10.1038/s10038-018-0478-z. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915213 Clinical Trial.
Nearly all patients had epileptic spasms with early response to treatment, early developmental delay and/or regression followed by generalized hypotonia, postnatal microcephaly, elevated lactate levels, and progressive cerebral atrophy. Our study provides further ev …
Nearly all patients had epileptic spasms with early response to treatment, early developmental delay and/or regression followed by genera …
Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea.
Fusco C, Ucchino V, Frattini D, Pisani F, Della Giustina E. Fusco C, et al. Eur J Paediatr Neurol. 2012 Jul;16(4):373-8. doi: 10.1016/j.ejpn.2011.12.005. Epub 2011 Dec 23. Eur J Paediatr Neurol. 2012. PMID: 22197452
Chorea paralytica patients were bedridden, unable to take independent steps, showed severe generalized hypotonia and were hospitalized for 3-4 weeks. Additional clinical evaluations were undertaken at 1, 3 and 6 months and 1, 2 and 4 years from onset of chore …
Chorea paralytica patients were bedridden, unable to take independent steps, showed severe generalized hypotonia and were hosp …
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
Six were homozygous for the c.317-2A>G mutation, 2 were compound heterozygous for mutations c.317-2A>G and c.628A>C and 1 was homozygous for the novel c.701A>C mutation. Generalized hypotonia, lactic acidosis, hyperammonemia and 3-MGA were present in all …
Six were homozygous for the c.317-2A>G mutation, 2 were compound heterozygous for mutations c.317-2A>G and c.628A>C and 1 was homoz …
Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome.
Ragaie C, Kishk NA, Nawito AM, Othman AS, Magdy R. Ragaie C, et al. Int J Neurosci. 2023 Jan;133(1):81-85. doi: 10.1080/00207454.2021.1886096. Epub 2021 Feb 17. Int J Neurosci. 2023. PMID: 33554696
The mother reported history of polyhydramnios, febrile seizure & developmental delay. Through clinical & radiological assessment revealed generalized hypotonia, low intelligence quotient (IQ), congenital ureteric stricture & pulmonary hypertension …
The mother reported history of polyhydramnios, febrile seizure & developmental delay. Through clinical & radiological assessm …
PEHO syndrome: a study of five Argentinian patients.
Caraballo RH, Pozo AN, Gomez M, Semprino M. Caraballo RH, et al. Pediatr Neurol. 2011 Apr;44(4):259-64. doi: 10.1016/j.pediatrneurol.2010.11.007. Pediatr Neurol. 2011. PMID: 21397166
During their first neurologic examination, between ages 2-6 months, patients presented with facial dysmorphia, poor visual contact, and generalized hypotonia with poor head control. Microcephaly and swelling of the dorsum of the hands and feet were evident. ...
During their first neurologic examination, between ages 2-6 months, patients presented with facial dysmorphia, poor visual contact, and g …
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW. Martens K, et al. Eur J Hum Genet. 2007 Oct;15(10):1029-33. doi: 10.1038/sj.ejhg.5201881. Epub 2007 Jun 20. Eur J Hum Genet. 2007. PMID: 17579669
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. ...Finally, we have invest …
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients presen …
26 results