2024

Biswas DD, Shi Y, El Haddad L, Sethi R, Huston M, Kehoe S, Scarrow ER, Strickland LM, Pucci LA, Dhindsa JS, Hunanyan A, La Spada AR, ElMallah MK. Respiratory neuropathology in spinocerebellar ataxia type 7. JCI Insight. 2024 Jul 18;9(18):e170444. doi: 10.1172/jci.insight.170444. PMID: 39053472; PMCID: PMC11457860.
 

Biswas, Debolina & Sethi, Ronit & Woldeyohannes, Yochebed & Scarrow, Evelyn & El Haddad, Léa & Lee, Jane & Elmallah, Mai. (2024). Respiratory pathology in the TDP-43 transgenic mouse model of amyotrophic lateral sclerosis. Frontiers in Physiology. 15. 10.3389/fphys.2024.1430875.

Roger AL, Biswas DD, Huston ML, Le D, Bailey AM, Pucci LA, Shi Y, Robinson-Hamm J, Gersbach CA, ElMallah MK. Respiratory characterization of a humanized Duchenne muscular dystrophy mouse model. Respir Physiol Neurobiol. 2024 Aug;326:104282. doi: 10.1016/j.resp.2024.104282. Epub 2024 May 21. PMID: 38782084.
 

2023

El Haddad L, Lai E, Murthy PKL, Biswas DD, Soufny R, Roger AL, Tata PR, ElMallah MK. GAA deficiency disrupts distal airway cells in Pompe disease. Am J Physiol Lung Cell Mol Physiol. 2023 Sep 1;325(3):L288-L298. doi: 10.1152/ajplung.00032.2023. Epub 2023 Jun 27. PMID: 37366541.
El Haddad L, Khan M, Soufny R, Mummy D, Driehuys B, Mansour W, Kishnani PS, ElMallah MK. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives. Ther Clin Risk Manag. 2023 Sep 1;19:713-729. doi: 10.2147/TCRM.S362871. PMID: 37680303; PMCID: PMC10480292.
Gromova A, Cha B, Robinson EM, Strickland LM, Nguyen N, ElMallah MK, Cortes CJ, La Spada AR. X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease. Acta Neuropathol Commun. 2023 Jun 2;11(1):90. doi: 10.1186/s40478-023-01582-1. PMID: 37269008; PMCID: PMC10239133.

2022

Roger AL, Sethi R, Huston ML, Scarrow E, Bao-Dai J, Lai E, Biswas DD, El Haddad L, Strickland LM, Kishnani PS, ElMallah MK. What's new and what's next for gene therapy in Pompe disease? Expert Opin Biol Ther. 2022 Sep;22(9):1117-1135. doi: 10.1080/14712598.2022.2067476. Epub 2022 Apr 27. PMID: 35428407; PMCID: PMC10084869.
Biswas DD, El Haddad L, Sethi R, Huston ML, Lai E, Abdelbarr MM, Mhandire DZ, ElMallah MK. Neuro-respiratory pathology in spinocerebellar ataxia. J Neurol Sci. 2022 Dec 15;443:120493. doi: 10.1016/j.jns.2022.120493. Epub 2022 Nov 13. PMID: 36410186; PMCID: PMC9808489.
Mhandire DZ, Burns DP, Roger AL, O'Halloran KD, ElMallah MK. Breathing in Duchenne muscular dystrophy: translation to therapy. J Physiol. 2022 Aug;600(15):3465-3482. doi: 10.1113/JP281671. Epub 2022 Jun 24. PMID: 35620971; PMCID: PMC9357048.
Gonzalez TJ, Simon KE, Blondel LO, Fanous MM, Roger AL, Maysonet MS, Devlin GW, Smith TJ, Oh DK, Havlik LP, Castellanos Rivera RM, Piedrahita JA, ElMallah MK, Gersbach CA, Asokan A. Cross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing. Nat Commun. 2022 Oct 10;13(1):5947. doi: 10.1038/s41467-022-33745-4. PMID: 36210364; PMCID: PMC9548504.

2021

Fusco AF, Pucci LA, Switonski PM, Biswas DD, Kahn AF, Dhindsa JS, Strickland LM, La Spada AR, ElMallah MK. Respiratory dysfunction in a mouse model of spinocerebellar ataxia type 7. Dis Model Mech. 2021.
Hunanyan AS, Kantor B, Puranam RS, Elliott C, McCall A, Dhindsa J, Pagadala P, Wallace K, Poe J, Gunduz T, Asokan A, Koeberl DD, ElMallah MK, Mikati MA. Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood. Hum Gene Ther. 2021 Feb 12. PMID: 33577387
Lu P, ElMallah MK, Liu Z, Wu C, Chen J, Lifshitz LM, ZhuGe R. Genetic deletion of the Tas2r143/Tas2r135/Tas2r126 cluster reveals that TAS2Rs may not mediate bitter tastant-induced bronchodilation. J Cell Physiol. 2021 Feb 8. PMID: 33559206

2020

ElMallah MK, Desai AK, Nading EB, DeArmey S, Kravitz RM, Kishnani PS. Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series. Pediatr Pulmonol. 2020 Mar;55(3):674-681. PMID: 31899940
Khan AA, Case LE, Herbert M, DeArmey S, Jones H, Crisp K, Zimmerman K, ElMallah MK, Young SP, Kishnani PS. Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. Genet Med. 2020 May;22(5):898-907. PMID: 31904026
Fusco AF, McCall AL, Dhindsa JS, Zheng L, Bailey A, Kahn AF, ElMallah MK. The Respiratory Phenotype of Pompe Disease Mouse Models. Int J Mol Sci. 2020 Mar 24;21(6). PMID: 32214050
Lind LA, Andel EM, McCall A, Dhindsa JS, Johnson KA, Stricklin OE, Mueller C, ElMallah MK, Lever TE, Nichols NL. Intralingual administration of AAVrh10-miR-SOD1 improves respiratory but not swallowing function in a SOD1 mouse model of ALS. Hum Gene Ther.2020 Aug;31(15-16):828-838. PMID: 32498636
Dhindsa JS, McCall AL, Strickland LM, Fusco AF, Kahn AF, ElMallah MK. Motor axonopathies in a mouse model of Duchenne muscular dystrophy. Sci Rep. 2020 Jun 2;10(1):8967. PMID: 32488044
Crayle J, Elmallah M, Sleasman J, Bedlack R. Total serum immunoglobulin A in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Jul 16:1-5. PMID: 32672072
McCall AL, Dhindsa JS, Pucci LA, Kahn AF, Fusco AF, Biswas DD, Strickland LM, Tseng HC, ElMallah MK. Respiratory pathology in the Optn-/- mouse model of Amyotrophic Lateral Sclerosis. Respir Physiol Neurobiol. 2020 Nov;282:103525. PMID: 32805420

2019

Keeler AM, Zieger M, Todeasa S, Mccall A, Gifford J, Bircsak S, Choudhury SR, Byrne BJ, Sena-Esteves M, ElMallah MK. Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease. Hum Gene Ther. 2019 Jan;30(1):57-68. PMID: 29901418
McCall AL, ElMallah MK. Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. Int J Mol Sci. 2019 Feb 11;20(3). PMID: 30754627
Zieger M, Keeler AM, Flotte TR, ElMallah MK. AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2019 Apr 17. PMID: 30993714
Koupenova M, Mick E, Corkrey HA, Singh A, Tanriverdi SE, Vitseva O, Levy D, Keeler AM, Ezzaty Mirhashemi M, ElMallah MK, Gerstein M, Rozowsky J, Tanriverdi K, Freedman JE. Pollen-derived RNAs Are Found in the Human Circulation. 2019 Aug 24;19:916-926. PMID: 31518900
Fusco AF, McCall AL, Dhindsa JS, Pucci LA, Strickland LM, Kahn AF, ElMallah MK. The Respiratory Phenotype of Rodent Models of Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia. J Neuroinflamm Neurodegener Dis. 2019;3(1). PMID: 31893284
Han SO, Li S, McCall A, Arnson B, Everitt JI, Zhang H, Young SP, ElMallah MK, Koeberl DD. Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease. Mol Ther Methods Clin Dev. 2019 Dec 6;17:133-142. PMID: 31909086
Keeler AM, Zieger M, Semple C, Pucci L, Veinbachs A, Brown RH Jr, Mueller C, ElMallah MK. Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model. Mol Ther Methods Clin Dev. 2019 Dec 24;17:246-257. PMID: 31970202

2018

Borel F, Sun H, Zieger M, Cox A, Cardozo B, Li W, Oliveira G, Davis A, Gruntman A, Flotte TR, Brodsky M, Hoffman AM, ElMallah MK, Mueller C. Editing out five Serpina1 paralogs to create a mouse model of genetic emphysema. Proc Natl Acad Sci U S A. 2018 Feb 16. PMID: 29453277
McCall AL, Salemi J, Bhanap P, Strickland LM, ElMallah MK. The impact of Pompe disease on smooth muscle: a review. J Smooth Muscle Res. 2018;54(0):100-118. PMID: 30787211

2017

Stoica L, Keeler AM, Xiong L, Kalfopolous M, Desrochers K, Brown RH Jr., Sena-Esteves M, Flotte TR, ElMallah MK. Restrictive Lung Disease in the SOD1G93A ALS mouse model. Am J Respir Cell Mol Biol. 2017 Mar;56(3):405-408 PMID: 26891182
Keeler AM, Liu D, Zieger M, Xiong L, Salemi J, Bellve K, Byrne BJ, Fuller DD, Zhuge R, ElMallah MK. Airway smooth muscle dysfunction in Pompe (Gaa-/-) mice. Am J Physiol Lung Cell Mol Physiol. 2017 Jun 1;312(6):L873-L881. PMID: 28336814
Keeler AM, ElMallah MK, Flotte TR. Gene Therapy 2017: Progress and Future Directions. Clin Transl Sci. 2017 Jul;10(4):242-248. PMID: 28383804
Kalfopoulos M, Wetmore K, ElMallah MK. Pathophysiology of Alpha-1 Antitrypsin Lung Disease. Methods Mol Biol. 2017;1639:9-19. PMID: 28752442
ElMallah MK, Bailey E, Trivedi M, Kremer T, Rhein LM. Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. Pediatr Ann. 2017 Sep 1;46(9). PMID: 28892549
Trivedi M, ElMallah MK, Bailey E, Kremer T, Rhein LM. Pediatric Obstructive Sleep Apnea and Asthma: Clinical Implications. Pediatr Ann. 2017 Sep 1;46(9) PMID: 28892548

 

2016

  • Turner SMF, ElMallah MK, Hoyt A, Greer JJ, Fuller DD. Ampakine CX717 potentiates intermittent hypoxia-induced hypoglossal long term facilitation. J Neurophysiol  2016 Jun 15:jn.00210.2016. doi: 10.1152/jn.00210.2016. [Epub ahead of print] PMID:  27306673 PubMed

  • Stoica L, Todeasa SH, Cabrera GT, Salameh JS, ElMallah MK, Mueller C, Brown RH, Sena-Esteves M. Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model. Ann Neurol. 2016 Apr; 79(4):687-700. PubMed

  • Turner SM, Hoyt AK, ElMallah MK, Falk DJ, Byrne BJ, Fuller DD. Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice. Respir Physiol Neurobiol. 2016 Jun 15; 227:48-55. PubMed

  • Loring HS, ElMallah MK, Flotte TR. Development of rAAV2-CFTR: History of the First rAAV Vector Product to be Used in Humans. Hum Gene Ther Methods. 2016 Apr; 27(2):49-58. PubMed

  • Borel F, Gernoux G, Cardozo B, Metterville JP, Toro Cabreja GC, Song L, Su Q, Gao GP, ElMallah MK, Brown RH, Mueller C. Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates. Hum Gene Ther. 2016 Jan; 27(1):19-31. PubMed

  • ElMallah MK, Stanley DA, Lee KZ, Turner SM, Streeter KA, Baekey DM, Fuller DD. Power spectral analysis of hypoglossal nerve activity during intermittent hypoxia-induced long-term facilitation in mice. J Neurophysiol. 2016 Mar 1; 115(3):1372-80. PubMed

2015

  • ElMallah MK, Pagliardini S, Turner SM, Cerreta AJ, Falk DJ, Byrne BJ, Greer JJ, Fuller DD. Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines. Am J Respir Cell Mol Biol. 2015 Sep; 53(3):326-35. PubMed

  • Bacewicz A, Wang W, Ashouri J, ElMallah MK. Children with Chronic Lung Disease: Facilitating Smoking Cessation for their Caregivers. J Community Health. 2015 Jun; 40(3):409-13. PubMed

  • Halawa M, Abu-Hasan MN, ElMallah MK. Hereditary mucoepithelial dysplasia and severe respiratory distress. Respir Med Case Rep. 2015; 15:27-9. PubMed

  • Falk DJ, Todd AG, Lee S, Soustek MS, ElMallah MK, Fuller DD, Notterpek L, Byrne BJ. Peripheral nerve and neuromuscular junction pathology in Pompe disease. Hum Mol Genet. 2015 Feb 1; 24(3):625-36. PubMed

2014

  • AbuHasan M, ElMallah MK, Neal D, Brookes J. Salivary Amylase Level in Bronchoalveolar Fluid as a Marker of Chronic Pulmonary Aspiration in Children. Pediatric Allergy, Immunology and Pulmonology.2014 Sep 1;27(3):115-119. PMID:26697264 PubMed

  • ElMallah MK, Falk DJ, Nayak S, Federico RA, Sandhu MS, Poirier A, Byrne BJ, Fuller DD. Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice. Mol Ther. 2014 Apr; 22(4):702-12. PubMed

2013

  • Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ, Byrne BJ. The respiratory neuromuscular system in Pompe disease. Respir Physiol Neurobiol. 2013 Nov 1; 189(2):241-9. PubMed

  • Falk DJ, Mah CS, Soustek MS, Lee KZ, ElMallah MK, Cloutier DA, Fuller DD, Byrne BJ. Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease. Mol Ther. 2013 Sep; 21(9):1661-7. PubMed

2012

  • ElMallah MK, Falk DJ, Lane MA, Conlon TJ, Lee KZ, Shafi NI, Reier PJ, Byrne BJ, Fuller DD. Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9. Hum Gene Ther Methods. 2012 Apr; 23(2):148-56. PubMed

  • ElMallah MK, Hendeles L, Hamilton RG, Capen C, Schuler PM. Management of patients with cystic fibrosis and allergic bronchopulmonary aspergillosis using anti-immunoglobulin e therapy (omalizumab). J Pediatr Pharmacol Ther. 2012 Jan; 17(1):88-92. PubMed

2011

  • ElMallah MK, Khan Y, Hochhaus G, Shuster JJ, Hendeles L. Systemic exposure to fluticasone MDI delivered through antistatic chambers. J Allergy Clin Immunol. 2011 Nov; 128(5):1113-5.e1-3. PubMed

  • Lee KZ, Qiu K, Sandhu MS, ElMallah MK, Falk DJ, Lane MA, Reier PJ, Byrne BJ, Fuller DD. Hypoglossal neuropathology and respiratory activity in pompe mice. Front Physiol. 2011; 2:31. PubMed

  • Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, ElMallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS. Pompe disease gene therapy. Hum Mol Genet. 2011 Apr 15; 20(R1):R61-8. PubMed

  • ElMallah MK, Prabhakaran S, Chesrown SE. Plastic bronchitis: resolution after heart transplantation. Pediatr Pulmonol. 2011 Aug; 46(8):824-5. PubMed

2002

  • ElMallah MK, Sands A, Casey F, Craig F, Mulholland C. Transcatheter Occlusion of the Patent Ductus Arteriosus (PDA): a Comparison between the Rashkind Double Umbrella and Cook Detachable Coil. Irish Journal of Medical Science, 2002; 171: 151-154. PMID: 15736355

2001

  • ElMallah MK, Hart PM, McClure M, Stevenson MR, Silvestri G, White ST, Chakravarthy U. Improvements in measures of vision and self-reported visual function after cataract extraction in patients with late-stage age-related maculopathy. Optometry and Vision Science. 2001; 78: 683-688. PMID: 11587203

2000

  • ElMallah MK, Chakravarthy U, Hart PM. Amblyopia: Is Visual Loss Permanent. British Journal of Ophthalmology. 2000 Sep; 84(9): 952-6  PMID: 10966943