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Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.
Published in:
Pediatric Drugs, 2024, v. 26, n. 6, p. 709, doi. 10.1007/s40272-024-00646-6
By:
- Alawneh, Issa;
- Alenizi, Asmaa;
- Paiz, Freddy;
- Nigro, Elisa;
- Vajsar, Jiri;
- Gonorazky, Hernan
Publication type:
Article
Respiratory characteristics in children with spinal muscular atrophy type 1 receiving nusinersen.
Published in:
Pediatric Pulmonology, 2023, v. 58, n. 1, p. 161, doi. 10.1002/ppul.26173
By:
- Xiao, Lena;
- Chiang, Jackie;
- Castro‐Codesal, Maria;
- Kolski, Hanna;
- Bedi, Prabhjot;
- Al Amrani, Fatema;
- Gonorazky, Hernan D.;
- Amin, Reshma
Publication type:
Article
CAMK4‐related Case of Hyperkinetic Movement Disorder.
Published in:
Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 707, doi. 10.1002/mdc3.13702
By:
- Alawneh, Issa;
- Amburgey, Kimberley;
- Gonorazky, Hernan;
- Gorodetsky, Carolina
Publication type:
Article
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. 3160, doi. 10.1093/brain/awu272
By:
- Böhm, Johann;
- Biancalana, Valérie;
- Malfatti, Edoardo;
- Dondaine, Nicolas;
- Koch, Catherine;
- Vasli, Nasim;
- Kress, Wolfram;
- Strittmatter, Matthias;
- Taratuto, Ana Lia;
- Gonorazky, Hernan;
- Laforêt, Pascal;
- Maisonobe, Thierry;
- Olivé, Montse;
- Gonzalez-Mera, Laura;
- Fardeau, Michel;
- Carrière, Nathalie;
- Clavelou, Pierre;
- Eymard, Bruno;
- Bitoun, Marc;
- Rendu, John
Publication type:
Article
Treating pediatric neuromuscular disorders: The future is now.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 804, doi. 10.1002/ajmg.a.38418
By:
- Dowling, James J.;
- D. Gonorazky, Hernan;
- Cohn, Ronald D.;
- Campbell, Craig
Publication type:
Article
The Child & Youth CompreHensIve Longitudinal Database for Deep Brain Stimulation (CHILD-DBS).
Published in:
Child's Nervous System, 2021, v. 37, n. 2, p. 607, doi. 10.1007/s00381-020-04880-4
By:
- Yan, Han;
- Siegel, Lauren;
- Breitbart, Sara;
- Gorodetsky, Carolina;
- Gonorazky, Hernan D.;
- Yau, Ivanna;
- Go, Cristina;
- Donner, Elizabeth;
- Kalia, Suneil K.;
- Fasano, Alfonso;
- Weil, Alexander G.;
- Fallah, Aria;
- Ibrahim, George M.
Publication type:
Article
Case report: Hereditary sensory autonomic neuropathy presenting as bifid deformity to the tongue.
Published in:
Frontiers in Dental Medicine, 2024, p. 01, doi. 10.3389/fdmed.2023.1179795
By:
- O'Hagan-Wong, Kelsey;
- Smith, Dana;
- Gonorazky, Hernan;
- Casas, Michael
Publication type:
Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
Published in:
Muscle & Nerve, 2017, v. 56, n. 5, p. E41, doi. 10.1002/mus.25737
By:
- Gonorazky, Hernan D.;
- Amburgey, Kimberly;
- Yoon, Grace;
- Vajsar, Jiri;
- Widjaja, Elysa;
- Dowling, James J.
Publication type:
Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
Published in:
2017
By:
- Gonorazky, Hernan D;
- Amburgey, Kimberly;
- Yoon, Grace;
- Vajsar, Jiri;
- Widjaja, Elysa;
- Dowling, James J
Publication type:
journal article
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
Published in:
2016
By:
- Sabha, Nesrin;
- Volpatti, Jonathan R.;
- Gonorazky, Hernan;
- Reifler, Aaron;
- Davidson, Ann E.;
- Xingli Li;
- Eltayeb, Nadine M.;
- Dall'Armi, Claudia;
- Di Paolo, Gilbert;
- Brooks, Susan V.;
- Buj-Bello, Ana;
- Feldman, Eva L.;
- Dowling, James J.;
- Li, Xingli
Publication type:
journal article
Case report: A case of spinal muscular atrophy in a preterm infant: risks and bene?ts of treatment.
Published in:
Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1230889
By:
- Nigro, Elisa;
- Grunebaum, Eyal;
- Kamath, Binita;
- Licht, Christoph;
- Malcolmson, Caroline;
- Jeewa, Aamir;
- Campbell, Craig;
- McMillan, Hugh;
- Chakraborty, Pranesh;
- Tarnopolsky, Mark;
- Gonorazky, Hernan
Publication type:
Article
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Published in:
Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209
By:
- Cummings, Beryl B.;
- Marshall, Jamie L.;
- Tukiainen, Taru;
- Lek, Monkol;
- Donkervoort, Sandra;
- Foley, A. Reghan;
- Bolduc, Veronique;
- Waddell, Leigh B.;
- Sandaradura, Sarah A.;
- O'Grady, Gina L.;
- Estrella, Elicia;
- Reddy, Hemakumar M.;
- Zhao, Fengmei;
- Weisburd, Ben;
- Karczewski, Konrad J.;
- O'Donnell-Luria, Anne H.;
- Birnbaum, Daniel;
- Sarkozy, Anna;
- Ying Hu;
- Gonorazky, Hernan
Publication type:
Article
Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.
Published in:
Journal of Neurology, 2023, v. 270, n. 8, p. 3946, doi. 10.1007/s00415-023-11722-1
By:
- Alawneh, Issa;
- Stosic, Ana;
- Gonorazky, Hernan
Publication type:
Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
By:
- Leveille, Etienne;
- Gonorazky, Hernan D.;
- Rioux, Marie‐France;
- Hazrati, Lili‐Naz;
- Ruskey, Jennifer A.;
- Carnevale, Amanda;
- Spiegelman, Dan;
- Dionne‐Laporte, Alexandre;
- Rouleau, Guy A.;
- Yoon, Grace;
- Gan‐Or, Ziv
Publication type:
Article
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
Published in:
Movement Disorders, 2024, v. 39, n. 9, p. 1435, doi. 10.1002/mds.29794
By:
- Vogt, Lindsey M.;
- Yang, Kathryn;
- Tse, Gabriel;
- Quiroz, Vicente;
- Zaman, Zainab;
- Wang, Laura;
- Srouji, Rasha;
- Tam, Amy;
- Estrella, Elicia;
- Manzi, Shannon;
- Fasano, Alfonso;
- Northam, Weston T.;
- Stone, Scellig;
- Moharir, Mahendranath;
- Gonorazky, Hernan;
- McAlvin, Brian;
- Kleinman, Monica;
- LaRovere, Kerri L.;
- Gorodetsky, Carolina;
- Ebrahimi‐Fakhari, Darius
Publication type:
Article
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Published in:
Acta Neuropathologica, 2017, v. 133, n. 4, p. 517, doi. 10.1007/s00401-016-1656-8
By:
- Schartner, Vanessa;
- Romero, Norma;
- Donkervoort, Sandra;
- Treves, Susan;
- Munot, Pinki;
- Pierson, Tyler;
- Dabaj, Ivana;
- Malfatti, Edoardo;
- Zaharieva, Irina T.;
- Zorzato, Francesco;
- Abath Neto, Osorio;
- Brochier, Guy;
- Lornage, Xavière;
- Eymard, Bruno;
- Taratuto, Ana;
- Böhm, Johann;
- Gonorazky, Hernan;
- Ramos-Platt, Leigh;
- Feng, Lucy;
- Phadke, Rahul
Publication type:
Article
RNAseq analysis for the diagnosis of muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
By:
- Gonorazky, Hernan;
- Liang, Minggao;
- Cummings, Beryl;
- Lek, Monkol;
- Micallef, Johann;
- Hawkins, Cynthia;
- Basran, Raveen;
- Cohn, Ronald;
- Wilson, Michael D.;
- MacArthur, Daniel;
- Marshall, Christian R.;
- Ray, Peter N.;
- Dowling, James J.
Publication type:
Article
High Prevalence of Peroneal Neuropathy Among Children During the COVID-19 Pandemic.
Published in:
Canadian Journal of Neurological Sciences, 2023, v. 50, n. 4, p. 612, doi. 10.1017/cjn.2022.266
By:
- Alemán, Alberto;
- Nigro, Elisa;
- Gonorazky, Hernán D.
Publication type:
Article
Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Published in:
2022
By:
- Kernohan, Kristin D.;
- McMillan, Hugh J.;
- Yeh, Ed;
- Lacaria, Melanie;
- Kowalski, Michael;
- Campbell, Craig;
- Dowling, James J.;
- Gonorazky, Hernan;
- Marcadier, Janet;
- Tarnopolsky, Mark A.;
- Vajsar, Jiri;
- Mackenzie, Alex;
- Chakraborty, Pranesh
Publication type:
Letter
Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.
Published in:
Canadian Journal of Neurological Sciences, 2021, v. 48, n. 4, p. 504, doi. 10.1017/cjn.2020.229
By:
- McMillan, Hugh J.;
- Kernohan, Kristin D.;
- Yeh, Ed;
- Amburgey, Kim;
- Boyd, Jennifer;
- Campbell, Craig;
- Dowling, James J.;
- Gonorazky, Hernan;
- Marcadier, Janet;
- Tarnopolsky, Mark A.;
- Vajsar, Jiri;
- MacKenzie, Alex;
- Chakraborty, Pranesh
Publication type:
Article
A National Spinal Muscular Atrophy Registry for Real-World Evidence.
Published in:
Canadian Journal of Neurological Sciences, 2020, v. 47, n. 6, p. 810, doi. 10.1017/cjn.2020.111
By:
- Hodgkinson, Victoria L.;
- Oskoui, Maryam;
- Lounsberry, Joshua;
- M'Dahoma, Saïd;
- Butler, Emily;
- Campbell, Craig;
- MacKenzie, Alex;
- McMillan, Hugh J.;
- Simard, Louise;
- Vajsar, Jiri;
- Brais, Bernard;
- Chapman, Kristine M.;
- Chrestian, Nicolas;
- Crone, Meghan;
- Dobrowolski, Peter;
- Dojeiji, Susan;
- Dowling, James J.;
- Dupré, Nicolas;
- Genge, Angela;
- Gonorazky, Hernan
Publication type:
Article

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