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Year Number of Results
1976 1
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1984 2
1988 1
1991 1
1992 1
1995 2
1996 1
1997 1
1998 1
2000 1
2002 2
2003 1
2004 1
2005 4
2006 5
2007 1
2008 2
2009 2
2010 3
2011 2
2012 1
2013 2
2014 2
2015 1
2016 2
2017 2
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2019 3
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2022 3
2024 0

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54 results

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Page 1
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Cuinat S, et al. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14. Genet Med. 2022. PMID: 35567594 Free article.
It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease. ...The patie …
It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant …
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Microcephaly and short stature were found in 60% of the patients; and feeding difficulties, generalized hypotonia, and ptosis, were each found in 40%. We also provide the aggregated frequency of the 32 items included in the AUTS2 syndrome severity score (ASSS …
Microcephaly and short stature were found in 60% of the patients; and feeding difficulties, generalized hypotonia, and ptosis, …
Neonatal Guillain-Barré syndrome.
al-Qudah AA, Shahar E, Logan WJ, Murphy EG. al-Qudah AA, et al. Pediatr Neurol. 1988 Jul-Aug;4(4):255-6. doi: 10.1016/0887-8994(88)90042-2. Pediatr Neurol. 1988. PMID: 3242528
A term female infant had the clinical manifestations and accompanying electrophysiologic studies to fulfill the criteria of Guillain-Barre syndrome. At birth, she presented with generalized hypotonia, paucity of lower limb movements, and diminished muscle stretch re …
A term female infant had the clinical manifestations and accompanying electrophysiologic studies to fulfill the criteria of Guillain-Barre s …
Congenital Hypotonia in Toddlerhood.
Steiner N, Torres A, Reddy A, Augustyn M. Steiner N, et al. J Dev Behav Pediatr. 2017 Sep;38(7):556-557. doi: 10.1097/DBP.0000000000000497. J Dev Behav Pediatr. 2017. PMID: 28816914
The family moves every year because of the father's Air Force placement.David was born full-term in Virginia, with no reported pregnancy complications and no alcohol, tobacco, or drug exposure. He was delivered vaginally, with Apgar scores of 7 and 9, respectively and no r …
The family moves every year because of the father's Air Force placement.David was born full-term in Virginia, with no reported pregnancy com …
Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia.
Lopez-Espejo MA, Nuñez AC, Moscoso OC, Escobar RG. Lopez-Espejo MA, et al. Eur J Pediatr. 2021 Oct;180(10):3243-3246. doi: 10.1007/s00431-021-04038-7. Epub 2021 Apr 14. Eur J Pediatr. 2021. PMID: 33855616
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). ...These patients had a later onset of indepe …
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic feature …
X-linked centronuclear myopathy.
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS. Fan HC, et al. Am J Perinatol. 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. Am J Perinatol. 2003. PMID: 12874727
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. ...Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the c …
This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, an …
Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.
Kopyta I, Jamroz E, Kluczewska E, Sarecka-Hujar B. Kopyta I, et al. J Child Neurol. 2014 Apr;29(4):442-9. doi: 10.1177/0883073813478660. Epub 2013 Mar 14. J Child Neurol. 2014. PMID: 23503883
The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. ...
The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. …
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562
Eleven patients had de novo mutations, 4 - familial. In one family we observed intrafamilial variability of clinical course: severe L-CMD in the male proband, intermediate form in his sister and asymptomatic in their mother. ...Ultra-rare laminopathies can be a relatively …
Eleven patients had de novo mutations, 4 - familial. In one family we observed intrafamilial variability of clinical course: severe L …
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
D'Onofrio G, Riva A, Di Rosa G, Cali' E, Efthymiou S, Gitto E, Madia F, Accogli A, Zara F, Houlden H, Salpietro V, Striano P, Soler D. D'Onofrio G, et al. Brain Dev. 2022 Aug;44(7):469-473. doi: 10.1016/j.braindev.2022.03.010. Epub 2022 Apr 9. Brain Dev. 2022. PMID: 35414446 Review.
METHODS: We describe a pediatric case carrying a de novo GABBR2 pathogenic variant and showing a phenotype encompassing RTT, epilepsy, generalized hypotonia with a paroxysmal limb dystonia. RESULTS: A 11-year-old girl, born to non-consanguineous parents after an une …
METHODS: We describe a pediatric case carrying a de novo GABBR2 pathogenic variant and showing a phenotype encompassing RTT, epilepsy, ge …
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.
This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. 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 …
This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal rece …
54 results