Works matching DE "RETT syndrome"

Results: 1314

Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

Published in:

Journal of Integrative Neuroscience, 2022, v. 21, n. 2, p. 1, doi. 10.31083/j.jin2102059

By:

Kapel, Alen;
Kovacic, Tine;
Kos, Natasa;
Velnar, Tomaz

Publication type:

Article

Comparison of clinical, magnetic resonance and evoked potentials data in a case of valproic-acid-related hyperammonemic coma.

Published in:

2005

By:

Hantson, Philippe;
Grandin, Cécile;
Duprez, Thierry;
Nassogne, Marie-Cécile;
Guérit, Jean-Michel;
Grandin, Cécile;
Nassogne, Marie-Cécile;
Guérit, Jean-Michel

Publication type:

journal article

Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome.

Published in:

Child's Nervous System, 2017, v. 33, n. 11, p. 1883, doi. 10.1007/s00381-017-3567-y

By:

Ueda, Keisuke;
Sood, Sandeep;
Asano, Eishi;
Kumar, Ajay;
Luat, Aimee

Publication type:

Article

May GABA transaminase inhibitors improve stereotyped behaviors in Rett syndrome?

Published in:

2012

By:

Ghanizadeh, Ahmad

Publication type:

Letter

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.

Published in:

Brain Communications, 2022, v. 4, n. 4, p. 1, doi. 10.1093/braincomms/fcac197

By:

Saby, Joni N.;
Mulcahey, Patrick J.;
Zavez, Alexis E.;
Peters, Sarika U.;
Standridge, Shannon M.;
Swanson, Lindsay C.;
Lieberman, David N.;
Olson, Heather E.;
Key, Alexandra P.;
Percy, Alan K.;
Neul, Jeffrey L.;
Nelson, Charles A.;
Roberts, Timothy P. L.;
Benke, Timothy A.;
Marsh, Eric D.

Publication type:

Article

FUNKCJONOWANIE RODZINY DZIECKA Z ZESPOŁEM RETTA ZE SZCZEGÓLNYM UWZGLĘDNIENIEM ROLI KOMUNIKACJI ALTERNATYWNEJ (AAC) - STUDIUM INDYWIDUALNEGO PRZYPADKU.

Published in:

Szkoła Specjalna, 2023, v. 84, n. 3, p. 219, doi. 10.5604/01.3001.0053.8981

By:

CHOSZCZYK, KATARZYNA

Publication type:

Article

Mobile DNA elements in the generation of diversity and complexity in the brain.

Published in:

Nature Reviews Neuroscience, 2014, v. 15, n. 8, p. 497, doi. 10.1038/nrn3730

By:

Erwin, Jennifer A.;
Marchetto, Maria C.;
Gage, Fred H.

Publication type:

Article

Neurological disorders: Loss of MECP2 bridge in Rett.

Published in:

Nature Reviews Neuroscience, 2013, v. 14, n. 8, p. 520, doi. 10.1038/nrn3552

By:

Flight, Monica Hoyos

Publication type:

Article

Neurological disorders: Microglia - major players in Rett syndrome?

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 5, p. 291, doi. 10.1038/nrn3237

By:

Yates, Darran

Publication type:

Article

In brief.

Published in:: Nature Reviews Neuroscience, 2011, v. 12, n. 8, p. 430, doi. 10.1038/nrn3081
Publication type:: Article

Primitive way country come look inside.

Published in:

Leonardo, 2024, v. 57, n. 2, p. 179, doi. 10.1162/leon_a_02500

By:

Stienon, Ysolde;
Tsaplina, Marina

Publication type:

Article

Autonomic Responses to Music and Vibroacoustic Therapy in Rett Syndrome.

Published in:

Nordic Journal of Music Therapy, 2007, v. 16, n. 1, p. 42

By:

Bergström-Isacsson, Märith;
Julu, Peter O. O.;
Ingegerd Witt-Engerström

Publication type:

Article

Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism.

Published in:

2015

By:

Čalić, Aleksandra;
Peterlin, Borut

Publication type:

journal article

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure.

Published in:

2019

By:

Downs, Jenny;
Jacoby, Peter;
Leonard, Helen;
Epstein, Amy;
Murphy, Nada;
Davis, Elise;
Reddihough, Dinah;
Whitehouse, Andrew;
Williams, Katrina

Publication type:

journal article

Vglut2-based glutamatergic signaling in central noradrenergic neurons is dispensable for normal breathing and chemosensory reflexes.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.88673

By:

Yuan Chang;
Lusk, Savannah;
Chang, Andersen;
Ward, Christopher S.;
Ray, Russell S.

Publication type:

Article

Microvascular abnormalities in Rett syndrome.

Published in:

2013

By:

Bianciardi, G.;
Acampa, M.;
Lamberti, I.;
Sartini, S.;
Servi, M.;
Biagi, F.;
Bocchi, V.;
Hayek, J.;
Pastorelli, M.

Publication type:

Letter

Broadening the Phenotype Spectrum of MECP2 Variants in Men.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70056

By:

Lötjönen, Johannes;
Kurra, Venla;
Laivuori, Hannele;
Bjelogrlić, Nina

Publication type:

Article

Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2484

By:

Tang, Hai Xuan;
Lu, Y‐Thanh;
Ha, Thi Minh Thi;
Tran, Nhat‐Thang;
Dang, Doan Minh;
Ly, Son Xuan;
Bui, Thu Ha Thi;
Vo, Son Ta;
Thai, Minh Doan;
Nguyen, Vu Dinh;
Nguyen, Thong Van;
Dinh, Linh Thuy;
Luong, Lan‐Anh Thi;
Doan, Kim‐Phuong;
Nguyen, Kim Huong Thi;
Do, Thanh‐Thuy Thi;
Truong, Dinh‐Kiet;
Giang, Hoa;
Nguyen, Hoai‐Nghia;
Trinh, Thu Huong Nhut

Publication type:

Article

Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917

By:

Fang, Xiaolan;
Butler, Kameryn M.;
Abidi, Fatima;
Gass, Jennifer;
Beisang, Arthur;
Feyma, Timothy;
Ryther, Robin C.;
Standridge, Shannon;
Heydemann, Peter;
Jones, Mary;
Haas, Richard;
Lieberman, David N;
Marsh, Eric D.;
Benke, Tim A.;
Skinner, Steve;
Neul, Jeffrey L.;
Percy, Alan K.;
Friez, Michael J.;
Caylor, Raymond C.

Publication type:

Article

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1122

By:

Takahashi, Satoru;
Takeguchi, Ryo;
Kuroda, Mami;
Tanaka, Ryosuke

Publication type:

Article

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1088

By:

Takeguchi, Ryo;
Takahashi, Satoru;
Kuroda, Mami;
Tanaka, Ryosuke;
Suzuki, Nao;
Tomonoh, Yuko;
Ihara, Yukiko;
Sugiyama, Nobuyoshi;
Itoh, Masayuki

Publication type:

Article

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.968

By:

Wang, Jiaping;
Zhang, Qingping;
Chen, Yan;
Yu, Shujie;
Wu, Xiru;
Bao, Xinhua

Publication type:

Article

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.793

By:

Vidal, Silvia;
Pascual‐Alonso, Ainhoa;
Rabaza‐Gairí, Marc;
Gerotina, Edgar;
Brandi, Nuria;
Pacheco, Paola;
Xiol, Clara;
Pineda, Mercè;
Armstrong, Judith

Publication type:

Article

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.629

By:

Brown, Madalyn;
Ashcraft, Paula;
Arning, Erland;
Bottiglieri, Teodoro;
McClintock, William;
Giancola, Frank;
Lieberman, David;
Hauser, Natalie S.;
Miller, Rebecca;
Roullet, Jean‐Baptiste;
Pearl, Phillip;
Gibson, K. Michael

Publication type:

Article

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.573

By:

Eyal, Ori;
Berkenstadt, Michal;
Reznik‐Wolf, Haike;
Poran, Hana;
Ziv‐Baran, Tomer;
Greenbaum, Lior;
Yonath, Hagit;
Pras, Elon

Publication type:

Article

An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.532

By:

Yoon, Jin A.;
Yoo, Yongjin;
Lee, Je Sang;
Kim, Young Mi;
Shin, Yong Beom

Publication type:

Article

Gut microbiota profile in CDKL5 deficiency disorder patients.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-56989-0

By:

Borghi, Elisa;
Xynomilakis, Ornella;
Ottaviano, Emerenziana;
Ceccarani, Camilla;
Viganò, Ilaria;
Tognini, Paola;
Vignoli, Aglaia

Publication type:

Article

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39398-7

By:

Sysoeva, Olga;
Maximenko, Vladimir;
Kuc, Alexander;
Voinova, Victoria;
Martynova, Olga;
Hramov, Alexander

Publication type:

Article

Abnormal spectral and scale-free properties of resting-state EEG in girls with Rett syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-39398-7

By:

Sysoeva, Olga;
Maximenko, Vladimir;
Kuc, Alexander;
Voinova, Victoria;
Martynova, Olga;
Hramov, Alexander

Publication type:

Article

Higher Ground.

Published in:

Education Journal, 2007, n. 102, p. 14

By:

Izbicki, John

Publication type:

Article

Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.

Published in:

Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2023.1341746

By:

Kennedy, Melissa;
Glass, Larry;
Glaze, Daniel G.;
Kaminsky, Steve;
Percy, Alan K.;
Neul, Jeffrey L.;
Jones, Nancy E.;
Tropea, Daniela;
Horrigan, Joseph P.;
Nues, Paige;
Bishop, Kathie M.;
Youakim, James M.

Publication type:

Article

Trofinetide--a new chapter in rett syndrome's treatment.

Published in:

Frontiers in Pharmacology, 2023, p. 01, doi. 10.3389/fphar.2023.1284035

By:

Furqan, Muhammad

Publication type:

Article

Increased cocaine-induced conditioned place preference during periadolescence in maternally separated male BALB/c mice: the role of cortical BDNF, microRNA-212, and MeCP2.

Published in:

Psychopharmacology, 2016, v. 233, n. 17, p. 3279, doi. 10.1007/s00213-016-4373-z

By:

Viola, Thiago;
Wearick-Silva, Luis;
De Azeredo, Lucas;
Centeno-Silva, Anderson;
Murphy, Conor;
Marshall, Paul;
Li, Xiang;
Singewald, Nicolas;
Garcia, Frederico;
Bredy, Timothy;
Grassi-Oliveira, Rodrigo

Publication type:

Article

Health: General and Specific Health Issues.

Published in:: Journal of Applied Research in Intellectual Disabilities, 2014, v. 27, n. 4, p. 297, doi. 10.1111/jar.12107
Publication type:: Article

Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 3, p. 217, doi. 10.1111/j.1468-3148.2010.00603.x

By:

Jackowski, Andrea Parolin;
Laureano, Maura Regina;
Del'Aquilla, Marco Antônio;
de Moura, Luciana Monteiro;
Assunção, Idaiane;
Silva, Ivaldo;
Schwartzman, José Salomão

Publication type:

Article

Sleep Disturbance in Children with Rett Syndrome: A Qualitative Investigation of the Parental Experience.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2005, v. 18, n. 3, p. 201, doi. 10.1111/j.1468-3148.2005.00220.x

By:

McDougall, Allyson;
Kerr, Alison M.;
Espie, Colin A.

Publication type:

Article

Two Pediatric Cases of Successful Management of Postictal Transient Urinary Retention.

Published in:

Annals of Rehabilitation Medicine, 2020, v. 44, n. 1, p. 90, doi. 10.5535/arm.2020.44.1.90

By:

Ho Eun Park;
Je-Sang Lee;
Dong Min Kim;
Yong Beom Shin

Publication type:

Article

Anesthetic management of a pediatric patient with Rett syndrome - A case report -.

Published in:

Anesthesia & Pain Medicine, 2018, v. 13, n. 2, p. 173, doi. 10.17085/apm.2018.13.2.173

By:

Lee, A. Ran;
Hyung Kwan Lee;
Young Ung Kim;
Jae Ho Lee;
Ho Jun Kang;
Se Hun Park

Publication type:

Article

Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 9, p. 4085, doi. 10.1007/s00431-024-05668-3

By:

Berger, Tal David;
Fogel Berger, Chen;
Gara, Sewar;
Ben-Zeev, Bruria;
Weiss, Batia

Publication type:

Article

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2020, v. 33, n. 1, p. 99, doi. 10.14744/DAJPNS.2019.00067

By:

Coşkun, Murat;
Erbilgin, Seda;
Akalin, Ibrahim;
Kaya, Ilyas;
Guile, Zeynep Nur;
Berdeli, Afig

Publication type:

Article

MeCP2-induced heterochromatin organization is driven by oligomerization-based liquid–liquid phase separation and restricted by DNA methylation.

Published in:

Nucleus (1949-1034), 2022, v. 13, n. 1, p. 1, doi. 10.1080/19491034.2021.2024691

By:

Zhang, Hui;
Romero, Hector;
Schmidt, Annika;
Gagova, Katalina;
Qin, Weihua;
Bertulat, Bianca;
Lehmkuhl, Anne;
Milden, Manuela;
Eck, Malte;
Meckel, Tobias;
Leonhardt, Heinrich;
Cardoso, M. Cristina

Publication type:

Article

L1 retrotransposition is activated by Ten-eleven-translocation protein 1 and repressed by methyl-CpG binding proteins.

Published in:

Nucleus (1949-1034), 2017, v. 8, n. 5, p. 548, doi. 10.1080/19491034.2017.1330238

By:

Zhang, Peng;
Ludwig, Anne K.;
Hastert, Florian D.;
Rausch, Cathia;
Lehmkuhl, Anne;
Hellmann, Ines;
Smets, Martha;
Leonhardt, Heinrich;
Cardoso, M. Cristina

Publication type:

Article

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 3, p. 997, doi. 10.1007/s10803-024-06238-0

By:

Raspa, Melissa;
Gwaltney, Angela;
Bann, Carla;
von Hehn, Jana;
Benke, Timothy A.;
Marsh, Eric D.;
Peters, Sarika U.;
Ananth, Amitha;
Percy, Alan K.;
Neul, Jeffrey L.

Publication type:

Article

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Published in:

2023

By:

Narasimhan, Udayakumar;
Janakiraman, Abhinayaa;
Puskur, Dedeepya;
Anitha, Fatima Shirly;
Paul, Solomon Franklin Durairaj;
Koshy, Teena

Publication type:

Letter to the Editor

Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 3, p. 1334, doi. 10.1007/s10803-021-05030-8

By:

Bolbocean, Corneliu;
Andújar, Fabiola N.;
McCormack, Maria;
Suter, Bernhard;
Holder Jr., J. Lloyd

Publication type:

Article

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.

Published in:

2021

By:

Beskorovainaya, Tatiana;
Konovalov, Fedor;
Demina, Nina;
Shchagina, Olga;
Pashchenko, Maria;
Kanivets, Ilya;
Pyankov, Denis;
Ryzhkova, Oxana;
Polyakov, Alexander

Publication type:

Case Study

Drug Studies on Rett Syndrome: From Bench to Bedside.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 8, p. 2740, doi. 10.1007/s10803-020-04381-y

By:

Gomathi, Mohan;
Padmapriya, Subramanian;
Balachandar, Vellingiri

Publication type:

Article

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 118, doi. 10.1007/s10803-019-04230-7

By:

Hettiarachchi, D.;
Neththikumara, N. F.;
Pathirana, B. A. P. S.;
Dissanayake, V. H. W.

Publication type:

Article

Brief Report: Modest but Clinically Meaningful Effects of Early Behavioral Intervention in Twins with Rett Syndrome—A Case Study.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 12, p. 5063, doi. 10.1007/s10803-019-04185-9

By:

Titlestad, Kristine Berg;
Eldevik, Sigmund

Publication type:

Article

Movement Disorders and Syndromic Autism: A Systematic Review.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 1, p. 54, doi. 10.1007/s10803-018-3658-y

By:

Bell, L.;
Wittkowski, A.;
Hare, D. J.

Publication type:

Article