Works matching DE "MUSCLE hypotonia in children"

Results: 52

A Neonate with Recurrent Vomiting and Generalized Hypotonia Diagnosed with a Deficiency of Dihydropyrimidine Dehydrogenase.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1099, doi. 10.1080/15257770600894063

By:

Brussel, W.;
van Kuilenburg, A.B. P.;
Janssens, P.M. W.

Publication type:

Article

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1691, doi. 10.1007/s00431-014-2314-6

By:

Martin, Florence;
Kana, Veronika;
Mori, Andrea;
Fischer, Dirk;
Parkin, Nicolas;
Boltshauser, Eugen;
Rushing, Elisabeth;
Klein, Andrea

Publication type:

Article

A Hypotonic Infant.

Published in:: Clinical Pediatrics, 1963, v. 2, n. 3, p. 127
Publication type:: Article

Epidemiology and clinical characteristics of acute flaccid paralysis associated with non-polio ...

Published in:

Bulletin of the World Health Organization, 1995, v. 73, n. 5, p. 597

By:

Dietz, V.;
Andrus, J.

Publication type:

Article

Performance of acute flaccid paralysis surveillance compared with World Health Organization standards.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 2, p. 209, doi. 10.1111/jpc.12691

By:

Desai, Shalini;
Smith, Tiffany;
Thorley, Bruce R;
Grenier, Danielle;
Dickson, Nigel;
Altpeter, Ekkehardt;
Sabbe, Martine;
Elliott, Elizabeth;
Zurynski, Yvonne

Publication type:

Article

A Pilot Study for Evaluation of Hypotonia in Children With Neurofibromatosis Type 1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 3, p. 382, doi. 10.1177/0883073814531823

By:

Soucy, Elizabeth A.;
Wessel, Lauren E.;
Gao, Feng;
Albers, Anne C.;
Gutmann, David H.;
Dunn, Courtney M.

Publication type:

Article

Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study.

Published in:

2011

By:

Trabacca, Antonio;
Losito, Luciana;
De Rinaldis, Marta;
Gennaro, Leonarda

Publication type:

Case Study

Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report.

Published in:

2008

By:

Okuyaz, Çetin;
Ezgü, Fatih Süheyl;
Biberoåğlu, Gürsel;
Zeviani, Massimo;
Tiranti, Valeria;
Yılgör, Esat

Publication type:

Case Study

Cerebral and Cerebellar Motor Activation Abnormalities in a Subject With Joubert Syndrome: Functional Magnetic Resonance Imaging (MRI) Study.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 3, p. 214

By:

Parisi, Melissa A.;
Pinter, Joseph D.;
Glass, Ian A.;
Field, Katherine;
Maria, Bernard L.;
Chance, Phillip K;
Mahurin, Roderick K.;
Cramer, Steven C.

Publication type:

Article

Congenital Club Foot With Survival of Motor Neuron 1, Telomeric (SMN1) Gene Deletion.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 3, p. 212

By:

Echenne, Bernard;
Rivier, François;
Roubertie, Agathe;
Carson, Nancy L.

Publication type:

Article

Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2: Two Faces of Myelin Loss From Mutations in the Same Gene.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 616, doi. 10.1177/08830738030180090801

By:

Hudson, Lynn D.

Publication type:

Article

Molecular Basis of Canavan's Disease: From Human to Mouse.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 604, doi. 10.1177/08830738030180090601

By:

Surendran, Sankar;
Matalon, Kimberlee M.;
Tyring, Stephen K.;
Matalon, Reuben

Publication type:

Article

Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 9, p. 583

By:

Maria, Bernard L.;
Boltshauser, Eugen;
Palmer, Scott C.;
Tran, Thang X.

Publication type:

Article

Remifentanil based anesthetic management for orchiopexy operation in pediatric patient with congenital hypotonia.

Published in:

2019

By:

ÇALIŞKAN, Esra;
ŞENER, Mesut;
KIPRI, Meltem;
ARIBOĞAN, Anış

Publication type:

Case Study

A structured approach to the assessment of a floppy neonate.

Published in:

Journal of Pediatric Neurosciences, 2016, v. 11, n. 1, p. 2, doi. 10.4103/1817-1745.181250

By:

Ahmed, Molla Imaduddin;
Iqbal, Mehtab;
Hussain, Nahin

Publication type:

Article

Pentasomy 49,XXXXY Associated with a Chiari Type 1 Malformation and Cervical Syrinx.

Published in:

Pediatric Neurosurgery, 2007, v. 43, n. 1, p. 47, doi. 10.1159/000097526

By:

Raven, Ramin;
Bingham, Peter M.;
Graupman, Patrick

Publication type:

Article

Effect of a Home-Based Virtual Reality Intervention for Children with Cerebral Palsy Using Super Pop VR Evaluation Metrics: A Feasibility Study.

Published in:

Rehabilitation Research & Practice, 2015, v. 2015, p. 1, doi. 10.1155/2015/812348

By:

Chen, Yuping;
Garcia-Vergara, Sergio;
Howard, Ayanna M.

Publication type:

Article

Child with Edward’s syndrome for radiological procedure: An anesthetic challenge.

Published in:

2017

By:

Tomar, Gaurav Singh;
Kumar, Shailendra;
Goyal, Keshav;
Chaturvedi, Arvind

Publication type:

Letter to the Editor

Nemaline rod myopathy: a rare form of myopathy.

Published in:

2007

By:

Sharma, M. C.;
Gulati, S.;
Atri, S.;
Seth, R.;
Kalra, V.;
Das, T. K.;
Sarkar, C.

Publication type:

journal article

Multi-minicore disease: a rare form of myopathy.

Published in:

2007

By:

Sharma, M. C.;
Gulati, S.;
Sarkar, C.;
Jain, D.;
Kalra, V.;
Suri, V.

Publication type:

journal article

Unusual cause of recurrent flaccid paralysis in a child.

Published in:

2004

By:

Kumar, S.

Publication type:

Letter

THE ROLE OF GYMNASTICS AND DANCE IN REHABILITATING MOTOR CAPACITIES IN CHILDREN WITH DOWN SYNDROME.

Published in:

Sport & Society / Sport si Societate, 2014, v. 14, p. 102

By:

MORARU, CRISTINA;
HODORCA, RALUCA MIHAELA;
VASILESCU, DUMITRU

Publication type:

Article

Gangliozidóza GM1 asociovaná s mnohopočetnými mongolskými škvrnami.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2012, v. 67, n. 4, p. 242

By:

Urbanová, V.;
Behunová, J.;
Petrovič, R.;
Podracká, L.

Publication type:

Article

Research progress of floppy infant syndrome.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 573, doi. 10.3969/j.issn.1672-6731.2018.08.003

By:

HU Chao-ping;
LI Xi-hua

Publication type:

Article

Case 1: Unexpected muscular hypotonia and need for mechanical ventilation in a preterm infant (Case Presentation).

Published in:

Acta Paediatrica, 2008, v. 97, n. 12, p. 1602, doi. 10.1111/j.1651-2227.2008.00972.x

By:

Rochow, Niels;
Küster, Helmut;
Bandt, Christoph;
Hoffmann, Ulrich;
Fusch, Christoph

Publication type:

Article

Case 1: Unexpected muscular hypotonia and need for mechanical ventilation in a preterm infant (Discussion and Diagnosis).

Published in:

Acta Paediatrica, 2008, v. 97, n. 12, p. 1758, doi. 10.1111/j.1651-2227.2008.00973.x

By:

Rochow, Niels;
Küster, Helmut;
Bandt, Christoph;
Hoffmann, Ulrich;
Fusch, Christoph

Publication type:

Article

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Published in:

Acta Paediatrica, 2007, v. 96, n. 1, p. 130, doi. 10.1111/j.1651-2227.2007.00008.x

By:

Knuf, M.;
Faber, J.;
Huth, R. G.;
Freisinger, P.;
Zepp, F.;
Kampmann, C.

Publication type:

Article

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Published in:

2017

By:

Vasli, Nasim;
Harris, Elizabeth;
Karamchandani, Jason;
Bareke, Eric;
Majewski, Jacek;
Romero, Norma B.;
Stojkovic, Tanya;
Barresi, Rita;
Tasfaout, Hichem;
Charlton, Richard;
Malfatti, Edoardo;
Bohm, Johann;
Marini-Bettolo, Chiara;
Choquet, Karine;
Dicaire, Marie-Joseé;
Yi-Hong Shao;
Topf, Ana;
O'Ferrall, Erin;
Eymard, Bruno;
Straub, Volker

Publication type:

journal article

De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.

Published in:

2017

By:

Al Dhaibani, Muna A.;
Allingham-Hawkins, Diane;
El-Hattab, Ayman W.

Publication type:

Case Study

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.

Published in:

Acta Neuropathologica, 2004, v. 108, n. 2, p. 154, doi. 10.1007/s00401-004-0877-4

By:

Schröder, J. M.;
Hackel, V.;
Wanders, R. J. A.;
Göhlich-Ratmann, G.;
Voit, T.

Publication type:

Article

Evaluating Surveillance Indicators Supporting the Global Polio Eradication Initiative, 2011-2012.

Published in:

MMWR: Morbidity & Mortality Weekly Report, 2013, v. 62, n. 14, p. 270

By:

Eradication, Polio;
Sein, Carolyn

Publication type:

Article

Tongue fasciculations in an infant with spinal muscular atrophy type 1.

Published in:

Clinical Case Reports, 2015, v. 3, n. 10, p. 832, doi. 10.1002/ccr3.359

By:

Giannopoulou, Eleni Z.;
Martin, Thomas;
Wirth, Brunhilde;
Yilmaz, Umut;
Gortner, Ludwig;
Meyer, Sascha

Publication type:

Article

Differentiation not Discrimination: Delivering the Curriculum for Children with Down's Syndrome in Mainstream Schools.

Published in:

Support for Learning, 1998, v. 13, n. 4, p. 167, doi. 10.1111/1467-9604.00083

By:

Alton, Sandy

Publication type:

Article

Occupational and physical therapy interventions for children with central hypotonia.

Published in:: Developmental Medicine & Child Neurology, 2017, v. 59, p. 113, doi. 10.1111/dmcn.56_13512
Publication type:: Article

Neonatal hypertonia - a diagnostic challenge.

Published in:

2015

By:

Hart, Anthony R;
Sharma, Ruchi;
Rittey, Christopher D;
Mordekar, Santosh R

Publication type:

journal article

The relation between trunk control and upper extremity functions.

Published in:: Developmental Medicine & Child Neurology, 2015, v. 57, p. 19, doi. 10.1111/dmcn.12778_41
Publication type:: Article

Evaluation of the pediatric patient with hypotonia: don't forget the hypotonia-cystinuria syndrome!

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 3, p. 288, doi. 10.1111/j.1469-8749.2011.04195.x

By:

Jaeken, Jaak;
Creemers, John;
Régal, Luc

Publication type:

Article

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.

Published in:

2018

By:

Torga, Ana Patricia;
Hodax, Juanita;
Mori, Mari;
Schwab, Jennifer;
Quintos, Jose Bernardo

Publication type:

Case Study

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 887, doi. 10.1038/ejhg.2012.267

By:

Rump, Andreas;
Hildebrand, Laura;
Tzschach, Andreas;
Ullmann, Reinhard;
Schrock, Evelin;
Mitter, Diana

Publication type:

Article

Quantitative skeletal muscle ultrasonography in children with suspected neuromuscular disease.

Published in:

Muscle & Nerve, 2003, v. 27, n. 6, p. 699, doi. 10.1002/mus.10385

By:

S. Pillen;
R.R. Scholten;
M.J. Zwarts;
A. Verrips

Publication type:

Article

Resolution of severe cardiomyopathy in infantile Pompe disease.

Published in:

2015

By:

Parent, John J.;
Schamberger, Marcus

Publication type:

journal article

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Published in:

Clinical Genetics, 2017, v. 91, n. 1, p. 86, doi. 10.1111/cge.12783

By:

Barresi, S.;
Niceta, M.;
Alfieri, P.;
Brankovic, V.;
Piccini, G.;
Bruselles, A.;
Barone, M.R.;
Cusmai, R.;
Tartaglia, M.;
Bertini, E.;
Zanni, G.

Publication type:

Article

Phenotypic Heterogeneity and Parental Origin of Extra Chromosome 21 in Down Syndrome.

Published in:

Indian Pediatrics, 2010, v. 47, n. 5, p. 429, doi. 10.1007/s13312-010-0078-2

By:

MAMTA MURANJAN;
TEJASVI CHAUDHARI;
BABU RAO VUNDINTI

Publication type:

Article

PhD Abstract: The Identification of Clinically Relevant Gait Variables in Children With Hypotonia.

Published in:

2005

By:

Chester, Victoria

Publication type:

Abstract

Maternal administration of high dose vitamin D<sub>3</sub> for cerebral palsy in her child.

Published in:

European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 279, doi. 10.1007/s00431-004-1414-0

By:

Zimmermann, Bettina;
Dörr, Helmuth-Günther;
Dötsch, Jörg;
Müller, Wolfgang

Publication type:

Article

Acute flaccid myelitis in childhood: a retrospective cohort study.

Published in:

European Journal of Neurology, 2017, v. 24, n. 8, p. 1077, doi. 10.1111/ene.13345

By:

Andersen, E. W.;
Kornberg, A. J.;
Freeman, J. L.;
Leventer, R. J.;
Ryan, M. M.

Publication type:

Article

Neurologic findings of nutritional vitamin B<sub>12</sub> deficiency in children.

Published in:

Turkish Journal of Pediatrics, 2010, v. 52, n. 1, p. 17

By:

İncecik, Faruk;
Hergüner, M. Özlem;
Altunbaşak, Şakir;
Leblebisatan, Göksel

Publication type:

Article

Wild Poliovirus Importations -- West and Central Africa, January 2003-March 2004.

Published in:: MMWR: Morbidity & Mortality Weekly Report, 2004, v. 53, n. 20, p. 433
Publication type:: Article

Macrocerebellum: Significance and Pathogenic Considerations.

Published in:

Cerebellum, 2012, v. 11, n. 4, p. 1026, doi. 10.1007/s12311-012-0379-1

By:

Poretti, Andrea;
Mall, Volker;
Smitka, Martin;
Grunt, Sebastian;
Risen, Sarah;
Toelle, Sandra;
Benson, Jane;
Yoshida, Shoko;
Jung, Nikolai;
Tinschert, Sigrid;
Neuhann, Teresa;
Rauch, Anita;
Steinlin, Maja;
Meoded, Avner;
Huisman, Thierry;
Boltshauser, Eugen

Publication type:

Article

Familial RYR 1 Mutation Associated with Mild and Severe Central Core Disease.

Published in:

2010

By:

Erendzhinova, Ekaterina;
Robinson, Christopher A.;
Lowry, Noel J.;
Lemire, Edmond G.

Publication type:

Case Study