Works matching DE "MUSCLE hypotonia"

Results: 702

Research‐Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3‐Related Disorder: The End of a Diagnostic Journey for This Family.

Published in:

Clinical Genetics, 2025, v. 108, n. 1, p. 109, doi. 10.1111/cge.14741

By:

Liaqat, Khurram;
Treat, Kayla;
Mantcheva, Lili;
McLaughlin, Aaron;
Breman, Amy;
McPheron, Molly;
Conboy, Erin;
Vetrini, Francesco

Publication type:

Article

Correction: Donnelly et al. A Case of DNAJC12 -Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. Int. J. Neonatal Screen. 2024, 10 , 7.

Published in:

2025

By:

Donnelly, Colleen;
Estrella, Lissette;
Ginevic, Ilona;
Ganesh, Jaya

Publication type:

Correction Notice

Infantile Epileptic Spasms Syndrome Due to Neonatal Hypoglycemic Brain Injury: A Retrospective Audit.

Published in:

Indian Pediatrics, 2025, v. 62, n. 7, p. 525, doi. 10.1007/s13312-025-00038-0

By:

Gupta, Shreya;
Passi, Gouri Rao

Publication type:

Article

A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 4, p. 464, doi. 10.1111/pan.12378

By:

Scrivener, Timothy A.;
Ross, Stuart M.;
Street, Neil E.;
Webster, Richard I.;
De Lima, Jonathan C.

Publication type:

Article

The social work discipline in the management of Failure to thrive in infants and children: an integrated behavioral health approach to pediatric programming.

Published in:

Social Work in Health Care, 2024, v. 63, n. 3, p. 131, doi. 10.1080/00981389.2023.2286243

By:

Elswick, Susan;
West, Kayla;
Hirschi, Melissa;
Durham, Abigail;
Bowden, Michelle;
Yaun, Jason

Publication type:

Article

Preescolar masculino con Síndrome Prader-Willi y tromboembolia pulmonar.

Published in:

2015

By:

Padrón-Martínez, Miriam;
Partida-Gaytán, Armando;
Ridaura-Sánz, Cecilia

Publication type:

Case Study

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

Published in:

Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 3, p. 705, doi. 10.1111/jog.13873

By:

Tolva, Gianluca;
Silipigni, Rosamaria;
Quarenghi, Aida;
Vergani, Patrizia;
Guerneri, Silvana;
Milani, Donatella

Publication type:

Article

First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.

Published in:

Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 3, p. 570, doi. 10.1111/jog.13517

By:

Guterman, Sarah;
Hervé, Bérénice;
Rivière, Julie;
Fauvert, Delphine;
Clement, Patrice;
Vialard, François

Publication type:

Article

Does muscle biopsy change the treatment of pediatric muscular disease?

Published in:

2018

By:

Sujka, Joseph A.;
Le, Nhatrang;
Sobrino, Justin;
Benedict, Leo A.;
Rentea, Rebecca;
Alemayehu, Hanna;
St. Peter, Shawn D.

Publication type:

journal article

Prune belly syndrome.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 3, p. 219, doi. 10.1007/s00383-011-3046-6

By:

Hassett, S.;
Smith, G.;
Holland, A.

Publication type:

Article

High flow priapism: diagnosis and treatment in pediatric population.

Published in:

2011

By:

Corbetta, Juan;
Durán, Víctor;
Burek, Carol;
Sager, Cristian;
Weller, Santiago;
Paz, Enrique;
Lopez, Juan;
Corbetta, Juan Pablo;
Durán, Víctor;
Lopez, Juan Carlos

Publication type:

journal article

MRI and H-MRS in adenosine kinase deficiency.

Published in:

Neuroradiology, 2016, v. 58, n. 7, p. 697, doi. 10.1007/s00234-016-1676-z

By:

Staufner, C.;
Blom, H.;
Dionisi-Vici, C.;
Freisinger, P.;
Makhseed, N.;
Ballhausen, D.;
Kölker, S.;
Hoffmann, G.;
Harting, I.

Publication type:

Article

UNRAVELING THE COMPLEXITY: A CASE REPORT ON SPINAL DURAL ARTERIOVENOUS FISTULA.

Published in:

Knowledge: International Journal, 2024, v. 64, n. 4, p. 391

By:

Joveva, Elena Simeonovska;
Petrovski, Stefan;
Petkovska, Marija Trajkova;
Jovev, Marjan;
Karakolevska-Ilova, Marija

Publication type:

Article

Association of CHD8 Gene Polymorphic Variants with the Clinical Phenotype of Autism Spectrum Disorder.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 23, p. 7019, doi. 10.3390/jcm13237019

By:

Iwanicki, Tomasz;
Iwanicka, Joanna;
Balcerzyk-Matić, Anna;
Jarosz, Alicja;
Nowak, Tomasz;
Emich-Widera, Ewa;
Kazek, Beata;
Kapinos-Gorczyca, Agnieszka;
Kapinos, Maciej;
Gawron, Katarzyna;
Auguściak-Duma, Aleksandra;
Likus, Wirginia;
Niemiec, Paweł

Publication type:

Article

Behavioural aspects of cerebellar function in adults with Asperger syndrome.

Published in:

Cerebellum, 2005, v. 4, n. 4, p. 279, doi. 10.1080/14734220500355332

By:

Gowen, Emma;
Miall, R. Chris

Publication type:

Article

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis.

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 60, doi. 10.4274/jpr.85530

By:

Canda, Ebru;
Yazıcı, Havva;
Er, Esra;
Eraslan, Cenk;
Altınok, Yasemin Atik;
Serin, Hepsen Mine;
Habif, Sara;
Serdaroðlu, Gül;
Uçar, Sema Kalkan;
Onay, Hüseyin;
Özkýnay, Ferda;
Çoker, Mahmut

Publication type:

Article

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.

Published in:

Antioxidants, 2023, v. 12, n. 12, p. 2023, doi. 10.3390/antiox12122023

By:

Piñero-Pérez, Rocío;
López-Cabrera, Alejandra;
Álvarez-Córdoba, Mónica;
Cilleros-Holgado, Paula;
Talaverón-Rey, Marta;
Suárez-Carrillo, Alejandra;
Munuera-Cabeza, Manuel;
Gómez-Fernández, David;
Reche-López, Diana;
Romero-González, Ana;
Romero-Domínguez, José Manuel;
de Pablos, Rocío M.;
Sánchez-Alcázar, José A.

Publication type:

Article

Retrospective, Single Center Study of Clinical, Paraclinical and Natural Course of Infantile-Onset Pompe Disease.

Published in:

Zahedan Journal of Research in Medical Sciences, 2015, v. 17, n. 1, p. 43

By:

Noori, Noormohammad;
Miri-Aliabad, Ghasem;
Khajeh, Ali

Publication type:

Article

Phylogenetic evidence for multiple intertypic recombinations in enterovirus B81 strains isolated in Tibet, China.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep06035

By:

Lan Hu;
Yong Zhang;
Mei Hong;
Shuangli Zhu;
Dongmei Yan;
Dongyan Wang;
Xiaolei Li;
Zhen Zhu;
Tsewang;
Wenbo Xu

Publication type:

Article

The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients.

Published in:

International Journal of Paediatric Dentistry, 2008, v. 18, n. 1, p. 40, doi. 10.1111/j.1365-263X.2007.00857.x

By:

BAILLEUL‐FORESTIER, ISABELLE;
VERHAEGHE, VERONIEK;
FRYNS, JEAN‐PIERRE;
VINCKIER, FRANS;
DECLERCK, DOMINIQUE;
VOGELS, ANNICK

Publication type:

Article

The nature of spontaneous cavernosal activity.

Published in:

BJU International, 1999, v. 83, n. 4, p. 449, doi. 10.1046/j.1464-410x.1999.00996.x

By:

Çolakoglu;
Kutluay;
Ertekin

Publication type:

Article

Thyrotoxic Periodic Paralysis: A Review.

Published in:

Journal of Intensive Care Medicine, 2010, v. 25, n. 2, p. 71, doi. 10.1177/0885066609358849

By:

Pothiwala, Pooja;
Levine, Steven N.

Publication type:

Article

Mechanisms of obesity in Prader-Willi syndrome.

Published in:

Pediatric Obesity, 2018, v. 13, n. 1, p. 3, doi. 10.1111/ijpo.12177

By:

Khan, M. J.;
Gerasimidis, K.;
Edwards, C. A.;
Shaikh, M. G.

Publication type:

Article

Considerations for general anesthesia combined with epidural anesthesia in a patient with stiff-person syndrome.

Published in:

Journal of Anesthesia, 2007, v. 21, n. 4, p. 490, doi. 10.1007/s00540-007-0542-x

By:

Yamamoto, Katsumi;
Hara, Koji;
Horishita, Takafumi;
Sata, Takeyoshi

Publication type:

Article

A Rare Manifestation of Asymptomatic Ebstein’s Anomaly with Tricuspid Valve Endocarditis.

Published in:

Case Reports in Cardiology, 2017, p. 1, doi. 10.1155/2017/7630915

By:

Moazez, Carmel;
Zeitjian, Vicken;
Breburda, Christian;
Roy, Ranjini

Publication type:

Article

Anesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery.

Published in:

2025

By:

Santos, Jessica G.;
Buffon, Alexandre C.

Publication type:

Case Study

Hypotonic-hyporesponsive episodes following pertussis vaccination: a cause for concern?

Published in:

2002

By:

Gold, M.S.;
Gold, Michael S

Publication type:

journal article

Clinical Features and Factors Associated With Sepsis-Associated Encephalopathy in Children: Retrospective Single-Center Clinical Study.

Published in:

Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.838746

By:

Chen, Yihao;
Hu, Yan;
Li, Xufeng;
Chen, Peiling;
Wang, Chun;
Wang, Jing;
Wu, Jiaxing;
Sun, Yueyu;
Zheng, Guilang;
Lu, Yiyun;
Guo, Yuxiong

Publication type:

Article

MUSCULAR EVALUATION PRE AND POST SURGICAL INTERVENTION IN PATIENTS WITH TOTAL HIP REPLACEMENT - COMPARATIVE STUDY. RESEARCH PAPER.

Published in:

Romanian Journal of Functional & Clinical, Macro & Microscopical Anatomy & of Anthropology / Revista Româna de Anatomie Functionala si Clinica, Macro si Microscopica si de Antropologie, 2012, v. 11, n. 3, p. 325

By:

Neculăeş, M.;
Botez, P.

Publication type:

Article

Exploring the impact of visual and movement based priming on a motor intervention in the acute phase post-stroke in persons with severe hemiparesis of the upper extremity.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 15, p. 1515, doi. 10.1080/09638288.2016.1226419

By:

Patel, Jigna;
Qiu, Qinyin;
Yarossi, Mathew;
Merians, Alma;
Massood, Supriya;
Tunik, Eugene;
Adamovich, Sergei;
Fluet, Gerard

Publication type:

Article

Congenital chloride diarrhea: a review of twelve Arabian children.

Published in:

Clinical & Experimental Gastroenterology, 2013, v. 6, p. 71

By:

Elrefae, Fawaz;
Elhassanien, Ahmed Farag;
Alghiaty, Hesham Abdel-Aziz

Publication type:

Article

Hypotonia - A Rare Complication of 2, 4-D Amine Poisoning.

Published in:

Indian Journal of Forensic Medicine & Toxicology, 2013, v. 7, n. 1, p. 171

By:

Aundhakar, S. C.;
Mahajan, Sanket K.;
Mhaskar, Dhanesh M.;
Agrawal, Shirish M.

Publication type:

Article

Gait Parameter Adjustments for Walking on a Treadmill at Preferred, Slower, and Faster Speeds in Older Adults with Down Syndrome.

Published in:

Current Gerontology & Geratrics Research, 2012, p. 1, doi. 10.1155/2012/782671

By:

Smith, Beth A.;
Kubo, Masayoshi;
Ulrich, Beverly D.

Publication type:

Article

Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?

Published in:

Journal of Oral Pathology & Medicine, 2005, v. 34, n. 7, p. 444, doi. 10.1111/j.1600-0714.2005.00318.x

By:

Cauwels, R. G. E. C.;
De Coster, P. J.;
Mortier, G. R.;
Marks, L. A. M.;
Martens, L. C.

Publication type:

Article

Osteogenesis Imperfecta in Pregnancy: Case Report.

Published in:

Journal of Family & Reproductive Health, 2011, v. 5, n. 1, p. 31

By:

Rabiee, Maryam;
Etemadi, Mahin Rasi

Publication type:

Article

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00500-7

By:

Dittner-Moormann, Sabine;
Reschke, Madlen;
Biewald, Eva;
Kuechler, Alma;
Klein, Barbara;
Timmermann, Beate;
Lohmann, Dietmar;
Ketteler, Petra;
Kanber, Deniz

Publication type:

Article

Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.

Published in:

Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0430-8

By:

Herriges, John C.;
Dugan, Sarah L.;
Lamb, Allen N.

Publication type:

Article

Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency.

Published in:

2020

By:

Acıpayam, Can;
Güneş, Hatice;
Güngör, Olcay;
İpek, Sevcan;
Sarışık, Nafiz;
Demir, Nurcan Ş

Publication type:

journal article

Neonatal hypotonia.

Published in:

2017

By:

Law ‐ ye, Bruno;
Adamsbaum, Catherine

Publication type:

journal article

Neonatal hypotonia.

Published in:: 2017
Publication type:: journal article

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.

Published in:

2016

By:

Andersen, Erik W;
Leventer, Richard J;
Reddihough, Dinah S;
Davis, Mark R;
Ryan, Monique M

Publication type:

journal 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

Inherited neuromuscular disorders: Pathway to diagnosis.

Published in:

Journal of Paediatrics & Child Health, 2012, v. 48, n. 6, p. 458, doi. 10.1111/j.1440-1754.2011.02210.x

By:

Menezes, Manoj P;
North, Kathryn N

Publication type:

Article

Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 1/2, p. 64, doi. 10.1111/j.1440-1754.2010.01737.x

By:

Chaudhari, Tejasvi;
Todd, David A;
Kent, Alison L;
Dopita, Belinda;
Hallam, Lavinia;
Freckmann, Mary-Louise;
Johnston, Heather M

Publication type:

Article

Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl.

Published in:

2017

By:

Thong, M. K.;
Ali, Sofiah;
Park, Y. E.;
Kim, D. S.;
Goh, K. J.;
Wong, K. T.

Publication type:

Case Study

X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 10, p. 852, doi. 10.1177/08830738050200101601

By:

Holden, Kenton R.;
Zuñoga, Oscar F.;
May, Melani M.;
Su, Humberto;
Molinero, Marco R.;
Rogers, R. Curtis;
Schwartz, Charles E.

Publication type:

Article

Baclofen overdose.

Published in:

1980

By:

Lipscomb, D. J.;
Meredith, T. J.

Publication type:

journal article

HUMAN WEST NILE VIRUS INFECTION IN EASTERN CROATIA, AUGUST-SEPTEMBER, 2012.

Published in:

Rad Hrvatske Akademije Znanosti i Umjetnosti. Medicinske Znanosti, 2013, v. 517, n. 39, p. 73

By:

Vilibić-Čavlek, Tatjana;
Pem-Novosel, Iva;
Gjenero-Margan, Ira;
Pandak, Nenad;
Perić, Ljiljana;
Barbić, Ljubo;
Kožul, Karlo;
Listeš, Eddy;
Jeličić, Pavle;
Stevanović, Vladimir;
Savini, Giovanni

Publication type:

Article

Evaluation of the masticatory muscle function, physiological sleep variables, and salivary parameters after electromechanical therapeutic approaches in adult patients with Down syndrome: a randomized controlled clinical trial.

Published in:

2019

By:

Giannasi, Lilian Chrystiane;
Dutra, Marignês T. S.;
Tenguan, Vera L. S.;
Mancilha, Gabriela P.;
Silva, Gabriela R. C.;
Fillietaz-Bacigalupo, Elaine;
da Silva, Daniel B.;
Politti, Fabiano;
Nacif, Sergio R.;
de Oliveira, Ezequiel F.;
da Rocha, João C.;
Rocha, Carolina T.;
Romero, Mateus M.;
de Oliveira, Claudia S.;
de Oliveira, Luis V. F.;
de Mello Rode, Sigmar;
Koga-Ito, Cristiane Yumi;
Amorim, Jose B. O.;
Salgado, Miguel A. C.;
Gomes, Mônica F.

Publication type:

journal article

Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function.

Published in:

Developmental Neurorehabilitation, 2021, v. 24, n. 5, p. 296, doi. 10.1080/17518423.2020.1866706

By:

Tavares, Janiele de Sales;
Gama, Gabriela Lopes;
Dias Borges, Marcia Cristina;
de Sousa Santos, Agda Cristina;
Tavares, Jousilene de Sales;
Amorim, Melania Maria Ramos;
Melo, Adriana

Publication type:

Article