Works by Rodan, Lance H

Results: 27

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 8, p. 2812, doi. 10.1093/brain/awaf111

By:

Hengel, Holger;
Hannan, Shabab B;
Reich, Selina;
Beijer, Danique;
Roller, Johanna;
Gilsbach, Bernd K;
Gloeckner, Christian Johannes;
Greene, Daniel;
Timmann, Dagmar;
Depienne, Christel;
Mumford, Andrew;
O'Driscoll, Mary;
Nemeth, Andrea H;
Lundberg, Julie;
Rodan, Lance H;
Bruel, Ange-Line;
Delanne, Julian;
Deconinck, Tine;
Baets, Jonathan;
Gan-Or, Ziv

Publication type:

Article

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

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

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

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

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

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

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

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

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

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

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

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

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