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VAC14 Gene‐Related Parkinsonism‐Dystonia With Response to Deep Brain Stimulation.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 6, p. 494, doi. 10.1002/mdc3.12797
By:
- Gusmao, Claudio M.;
- Stone, Scellig;
- Waugh, Jeff L.;
- Yang, Edward;
- Lenk, Guy M.;
- Rodan, Lance H.
Publication type:
Article
The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases.
Published in:
Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 149, doi. 10.1002/mdc3.12573
By:
- Davis, Peter E.;
- Anselm, Irina;
- Ebrahimi‐Fakhari, Darius;
- Hildebrandt, Clara;
- Rodan, Lance H.;
- Bodamer, Olaf
Publication type:
Article
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Published in:
Journal of Child Neurology, 2017, v. 32, n. 1, p. 127, doi. 10.1177/0883073816672998
By:
- Rodan, Lance H.;
- Berry, Gerard T.;
- El Achkar, Christelle Moufawad;
- Poduri, Annapurna;
- Anselm, Irina;
- Prabhu, Sanjay P.;
- Yang, Edward
Publication type:
Article
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation.
Published in:
Journal of Child Neurology, 2016, v. 31, n. 8, p. 1027, doi. 10.1177/0883073816635749
By:
- Dy, Marisela E.;
- Chang, Florence C. F.;
- Jesus, Sol De;
- Anselm, Irina;
- Mahant, Neil;
- Zeilman, Pamela;
- Rodan, Lance H.;
- Foote, Kelly D.;
- Tan, Wen-Hann;
- Eskandar, Emad;
- Sharma, Nutan;
- Okun, Michael S.;
- Fung, Victor S. C.;
- Waugh, Jeff L.
Publication type:
Article
Anti–Glutamic Acid Decarboxylase Antibody Associated Limbic Encephalitis in a Child: Expanding the Spectrum of Pediatric Inflammatory Brain Diseases.
Published in:
Journal of Child Neurology, 2014, v. 29, n. 5, p. 677, doi. 10.1177/0883073813500527
By:
- Mishra, Navin;
- Rodan, Lance H.;
- Nita, Dragos A.;
- Gresa-Arribas, Nuria;
- Kobayashi, Jeff;
- Benseler, Susanne M.
Publication type:
Article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Published in:
2019
By:
- Maljevic, Snezana;
- Keren, Boris;
- Aung, Ye Htet;
- Forster, Ian C;
- Mignot, Cyril;
- Buratti, Julien;
- Lafitte, Aurélie;
- Freihuber, Cécile;
- Rodan, Lance H;
- Bergin, Ann;
- Hubert, Laurence;
- Poirier, Karine;
- Munnich, Arnold;
- Besmond, Claude;
- Hauser, Natalie;
- Miller, Rebecca;
- McWalter, Kirsty;
- Nabbout, Rima;
- Héron, Delphine;
- Leguern, Eric
Publication type:
Letter
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 555, doi. 10.1002/ajmg.a.61969
By:
- Hildebrandt, Clara;
- Fulton, Anne;
- Rodan, Lance H.
Publication type:
Article
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 189, doi. 10.1002/ajmg.a.61392
By:
- Boone, Philip M.;
- Paterson, Scott;
- Mohajeri, Kiana;
- Zhu, Wenmiao;
- Genetti, Casie A.;
- Tai, Derek J. C.;
- Nori, Neeharika;
- Agrawal, Pankaj B.;
- Bacino, Carlos A.;
- Bi, Weimin;
- Talkowski, Michael E.;
- Hogan, Benjamin M.;
- Rodan, Lance H.
Publication type:
Article
Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2554, doi. 10.1002/ajmg.a.60677
By:
- Rodan, Lance H.;
- Anyane‐Yeboa, Kwame;
- Chong, Karen;
- Klein Wassink‐Ruiter, Jolien S.;
- Wilson, Ashley;
- Smith, Lacey;
- Kothare, Sanjeev V.;
- Rajabi, Farrah;
- Blaser, Susan;
- Ni, Min;
- DeBerardinis, Ralph J.;
- Poduri, Annapurna;
- Berry, Gerard T.
Publication type:
Article
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome.
Published in:
PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127066
By:
- Rodan, Lance H.;
- Wells, Greg D.;
- Banks, Laura;
- Thompson, Sara;
- Schneiderman, Jane E.;
- Tein, Ingrid
Publication type:
Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
2019
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
By:
- Blok, Lot Snijders;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 5, p. 391, doi. 10.1002/jmd2.12303
By:
- Andzelm, Milena M.;
- Balasubramaniam, Shanti;
- Yang, Edward;
- Compton, Alison G.;
- Millington, Kate;
- Zhu, Jia;
- Anselm, Irina;
- Rodan, Lance H.;
- Thorburn, David R.;
- Christodoulou, John;
- Srivastava, Siddharth
Publication type:
Article
L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome.
Published in:
PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238224
By:
- Rodan, Lance H.;
- Poublanc, Julien;
- Fisher, Joseph A.;
- Sobczyk, Olivia;
- Mikulis, David J.;
- Tein, Ingrid
Publication type:
Article
Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986
By:
- Johannesen, Katrine M.;
- Gardella, Elena;
- Linnankivi, Tarja;
- Courage, Carolina;
- de Saint Martin, Anne;
- Lehesjoki, Anna‐Elina;
- Mignot, Cyril;
- Afenjar, Alexandra;
- Lesca, Gaetan;
- Abi‐Warde, Marie‐Thérèse;
- Chelly, Jamel;
- Piton, Amélie;
- Merritt, II, J. Lawrence;
- Rodan, Lance H.;
- Tan, Wen‐Hann;
- Bird, Lynne M.;
- Nespeca, Mark;
- Gleeson, Joseph G.;
- Yoo, Yongjin;
- Choi, Murim
Publication type:
Article
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies.
Published in:
Clinical Chemistry, 2018, v. 64, n. 5, p. 870, doi. 10.1373/clinchem.2018.287292
By:
- Almontashiri, Naif A. M.;
- Rodan, Lance H.;
- Peake, Roy W. A.
Publication type:
Article
Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.
Published in:
Clinical Chemistry, 2017, v. 63, n. 11, p. 1771, doi. 10.1373/clinchem.2017.279497
By:
- Peake, Roy W. A.;
- Rodan, Lance H.
Publication type:
Article
Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child.
Published in:
Clinical Chemistry, 2017, v. 63, n. 6, p. 1171, doi. 10.1373/clinchem.2017.271643
By:
- Peake, Roy W. A.;
- Rodan, Lance H.
Publication type:
Article
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.
Published in:
2022
By:
- Alecu, Julian E.;
- Saffari, Afshin;
- Jumo, Hellen;
- Ziegler, Marvin;
- Strelko, Oleksandr;
- Brownstein, Catherine A.;
- Gonzalez‐Heydrich, Joseph;
- Rodan, Lance H.;
- Gorman, Mark P.;
- Sahin, Mustafa;
- Ebrahimi‐Fakhari, Darius
Publication type:
Case Study
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 468, doi. 10.1111/cge.14022
By:
- Palmer, Elizabeth E.;
- Whitton, Chloe;
- Hashem, Mais O.;
- Clark, Robin D.;
- Ramanathan, Subhadra;
- Starr, Lois J.;
- Velasco, Danita;
- De Dios, John Karl;
- Singh, Emily;
- Cormier‐Daire, Valerie;
- Chopra, Maya;
- Rodan, Lance H.;
- Nellaker, Christoffer;
- Lakhani, Shenela;
- Mallack, Eric J.;
- Panzer, Karin;
- Sidhu, Alpa;
- Wentzensen, Ingrid M.;
- Lacombe, Didier;
- Michaud, Vincent
Publication type:
Article
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Published in:
Annals of Neurology, 2020, v. 88, n. 6, p. 1153, doi. 10.1002/ana.25904
By:
- Shao, Diane D.;
- Achkar, Christelle M.;
- Lai, Abbe;
- Srivastava, Siddharth;
- Doan, Ryan N.;
- Rodan, Lance H.;
- Chen, Allen Y.;
- Poduri, Annapurna;
- Yang, Edward;
- Walsh, Christopher A.;
- Irons, Mira B.;
- Johnson, Ervin L.;
- Ojeda, Mayra Martinez;
- Olson, Heather E.;
- Sahin, Mustafa;
- Stredny, Coral M.;
- Tan, Wen‐Hann
Publication type:
Article
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Published in:
Annals of Neurology, 2019, v. 85, n. 6, p. 921, doi. 10.1002/ana.25477
By:
- Stergachis, Andrew B.;
- Pujol‐Giménez, Jonai;
- Gyimesi, Gergely;
- Fuster, Daniel;
- Albano, Giusppe;
- Troxler, Marina;
- Hediger, Matthias A.;
- Picker, Jonathan;
- Rodan, Lance H.;
- Rosenberg, Paul A.;
- Bergin, Ann;
- Peters, Jurriaan;
- El Achkar, Christelle Moufawad;
- Harini, Chellamani;
- Rotenberg, Alexander;
- Manzi, Shannon
Publication type:
Article
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Published in:
2019
By:
- Stergachis, Andrew B;
- Pujol-Giménez, Jonai;
- Gyimesi, Gergely;
- Fuster, Daniel;
- Albano, Giusppe;
- Troxler, Marina;
- Picker, Jonathan;
- Rosenberg, Paul A;
- Bergin, Ann;
- Peters, Jurriaan;
- El Achkar, Christelle Moufawad;
- Harini, Chellamani;
- Manzi, Shannon;
- Rotenberg, Alexander;
- Hediger, Matthias A;
- Rodan, Lance H
Publication type:
journal article
Recessive mutations in VPS13D cause childhood onset movement disorders.
Published in:
2018
By:
- Gauthier, Julie;
- Meijer, Inge A.;
- Lessel, Davor;
- Mencacci, Niccolò E.;
- Krainc, Dimitri;
- Hempel, Maja;
- Tsiakas, Konstantinos;
- Prokisch, Holger;
- Rossignol, Elsa;
- Helm, Margaret H.;
- Rodan, Lance H.;
- Karamchandani, Jason;
- Carecchio, Miryam;
- Lubbe, Steven J.;
- Telegrafi, Aida;
- Henderson, Lindsay B.;
- Lorenzo, Kerry;
- Wallace, Stephanie E.;
- Glass, Ian A.;
- Hamdan, Fadi F.
Publication type:
journal article
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
Published in:
Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad110
By:
- Jangam, Sharayu V.;
- Briere, Lauren C.;
- Jay, Kristy L.;
- Andrews, Jonathan C.;
- Walker, Melissa A.;
- Rodan, Lance H.;
- High, Frances A.;
- Yamamoto, Shinya;
- Sweetser, David A.;
- Wangler, Michael F.
Publication type:
Article

Found: 26