You're location is
All Regions

Neurodevelopmental & Musculoskeletal Publications


Akyol Y, Kandula V, Choudhary A. Syntelencephaly associated with cystic cochleovestibular malformations. Neurology 2016;86:198-199.


Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM, DELOS Study Group. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy. Pediatr Pulmonol 2016 Aug 29 [Epub ahead of print].


Chegondi M, Totapally BR. Spurious hyperchloremia and negative anion gap in a child with refractory epilepsy. Case Rep Crit Care 2016;2016:7015463.


Chugani DC, Chugani HT, Wiznitzer M, Parikh S, Evans PA, Hansen RL, Nass R, Janisse JJ, Dixon-Thomas P, Behen M, Rothermel R, Parker JS, Kumar A, Muzik O, Edwards DJ, Hirtz D; Autism Center of Excellence Network. Efficacy of low-dose buspirone for restricted and repetitive behavior in young children with autism spectrum disorder: a randomized trial. J Pediatr 2016;170:45-53.


Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J; Inherited Neuropathies Consortium. Phenotypic variability of childhood Charcot-Marie-tooth disease. JAMA Neurol 2016;73:645-651.


Daugherty C, Ngo T, Drehner D, Maugans T. Mature teratoma confined to the posterior fossa. Pediatr Neurosurg 2016;51:93-98.


Dayan PS, Lillis K, Bennett J, Conners G, Bailey P, Callahan J, Akman C, Feldstein N, Kriger J, Hauser WA, Kuppermann N. Prevalence of at-risk factors for intracranial abnormalities in unprovoked seizures. Pediatrics 2016;136:e351-360.


De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, Young SD, Salazar R, Quigley J, Pera MC, Antonaci L, Lapenta L, Glanzman AM, Tiziano D, Muntoni F, Darras BT, De Vivo DC, Finkel R, Mercuri E. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord 2016;26:754-759.


Dombkowski AA, Batista CE, Cukovic D, Carruthers NJ, Ranganathan R, Shukla U, Stemmer PM, Chugani HT, Chugani DC. Cortical tubers: windows into dysregulation of epilepsy risk and synaptic signaling genes by microRNAs. Cereb Cortex 2016;26:1059-1071.


Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, Pasternak A, Riley S, Sproule D, Chiriboga C, Finkel R, Tennekoon G, Darras B, De Vivo D, Pandya S. Physical therapy services received by individuals with spinal muscular atrophy. J Pediatr Rehabil Med 2016;9:35-44.


Finkel RS, Bishop KM, Nelson RM. Spinal muscular atrophy type I: is it ethical to standardize supportive care intervention in clinical trials? J Child Neurol 2016;32:155-160.


Govil-Dalela T, Kumar A, Moltz KC, Chugani HT. Use of gonadotropin-releasing hormone for intractable seizures in a girl with precocious puberty without hypothalamic hamartoma. J Pediatr 2016;174:264-266.


Jeong JW, Asano E, Juhasz C, Behen ME, Chugani HT. Postoperative axonal changes in the contralateral hemisphere in children with medically refractory epilepsy: a longitudinal diffusion tensor imaging connectome analysis. Hum Brain Mapp 2016;37:3946-3956.


Jeong JW, Sundaram S, Behen ME, Chugani HT. Differentiation of speech delay and global developmental delay in children using DTI tractography-based connectome. Am J Neuroradiol 2016;37:1170-1177.


Joffe M, Loiselle J. Musculoskeletal emergencies. In: Shaw KS, Bachur RG, eds. Fleisher & Ludwig’s Textbook of Pediatric Emergency Medicine. 7th edn. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins; 2016:1376-1397.


Kamson DO, Pilli VK, Asano E, Jeong JW, Sood S, Juhasz C, Chugani HT. Cortical thickness asymmetries and surgical outcome in neocortical epilepsy. J Neurol Sci 2016;368:97-103.


Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Dunaway Young S, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, Pane M, Scoto M, Pera MC, Messina S, Tennekoon G, Day JW, Darras BT, De Vivo DC, Finkel R, Muntoni F, Mercuri E. Revised upper-limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 2016 Oct 4 [Epub ahead of print].


McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM; DELOS Study Group. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscul Disord 2016;26:473-480.


Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Muntoni F, De Vivo DC. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord 2016;26:126-131.


Nicholson K, Lennon N, Hulbert R, Church F, Miller F. Preoperative walking activity in youth with cerebral palsy. Res Dev Disabil 2016;29:77-82.


Pasternak A, Sideridis G, Fragala-Pinkham M, Glanzman AM, Montes J, Dunaway S, Salazar R, Quigley J, Pandya S, O'Riley S, Greenwood J, Chiriboga C, Finkel R, Tennekoon G, Martens WB, McDermott MP, Szelag Fournier H, Madabusi L, Harrington T, Cruz RE, LaMarca NM, Videon NM, De Vivo DC, Darras BT; Muscle Study Group (MSG); Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCRN). Rasch analysis of the pediatric evaluation of disability inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy. Muscle Nerve 2016 Oct 6 [Epub ahead of print].


Ruparelia K, Abubakar A, Badoe E, Bakare M, Visser K, Chugani DC, Chugani HT, Donald KA, Wilmshurst JM, Shih A, Skuse D, Newton CR. Autism spectrum (AS) disorders in Africa: current challenges in identification, assessment, and treatment: a report on the International Child Neurology Association Meeting on AS in Africa, Ghana, April 3-5, 2014. J Child Neurol 2016;31:1018-1026.


Sabri MI, Dairman W, Fenton M, Juhasz L, Ng T, Spencer PS. Effect of exogenous pyruvate on acrylamide neuropathy in rats. Brain Res 1989;483:1-11.


Sahin M, Henske EP, Manning BD, Ess KC, Bissler JJ, Klann E, Kwiatkowski DJ, Roberds SL, Silva AJ, Hillaire-Clarke CS, Young LR, Zervas M, Mamounas LA; Tuberous Sclerosis Complex Working Group to Update the Research Plan. Advances and future directions for tuberous sclerosis complex research: recommendations from the 2015 Strategic Planning Conference. Pediatr Neurol 2016;60:1-12.


Van der Stap DK, Rider LG, Alexanderson H, Huber AM, Gualano B, Gordon P, Van der Net J, Mathiesen P, Johnson LG, Ernste FC, Feldman BM, Houghton KM, Singh-Grewal D, Kutzbach AG, Alemo Munters L, Takken T; International Myositis Assessment and Clinical Studies Group. Proposal for a candidate core set of fitness and strength tests for patients with childhood or adult idiopathic inflammatory myopathies. J Rheumatol 2016;43:169-176.



Agarwal M, Ulmer JL, Chandra T, Klein AP, Mark LP, Mohan S. Imaging correlates of neural control of ocular movements. Eur Radiol 2015 Sep 22 [Epub ahead of print].


Alqahtani MF, Wainwright MS. Sepsis-associated neurologic dysfunction. Clin Pediatr Emerg Med 2015;16:62-68.


Baruah D, Chandra T, Bajaj M, Sonowal P, Klein A, Maheshwari M, Guleria S. A simplified algorithm for diagnosis of spinal cord lesions. Curr Probl Diagn Radiol 2015;44:256-266.


Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T; DELOS Study Group. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet 2015;385:1748-1757.


Chandra T, Maheshwari M, Kelly TG, Segall HD, Agarwal M, Mohan S. Imaging of pediatric skull base lesions. Neurographics 2015;13:72-84.


Chandra T, Mohan S, Chawla S, Poptani H. MR spectroscopy for neurodegenerative disorders. In: Kanekar SG, ed. Imaging of Neurodegenerative Disorders. Thieme: New York. 2015;312-315.


Chua C, Gurnurkar S, Rodriguez-Prado Y, Niklas V. Prolonged ileus in an infant presenting with primary congenital hypothyroidism. Case Rep Pediatr 2015;ID584735.


Daneman A, Epelman M. Neurosonography: in pursuit of an optimized examination. Pediatr Radiol 2015;45:406-412.


Frick SL. Skeletal growth, development and healing as related to pediatric trauma. In:  Swiontkowski MG, ed. Skeletal Trauma in Children, 5th edn. Elsevier: Philadelphia. 2015;1-15.


Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; on behalf of the Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium Natural History Study: a cross-sectional analysis. J Neurol Neurosurg Psychiatr 2015;86:873-878.


Glass T, Ruddy RM, Alpern ER, Gorelick M, Callahan J, Lee L, Gerardi M, Melville K, Miskin M, Holmes JF, Kuppermann N; Pediatric Emergency Care Applied Research Network (PECARN). Traumatic brain injuries and computed tomography use in pediatric sports participants. Am J Emerg Med 2015;33:1458-1464.


Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G, Finkel RS. Spectrum of neuropathophysiology in spinal muscular atrophy type I. J Neuropathol Exp Neurol 2015;74:15-24.


Kazemizadeh MA, Black A, Sidman J. Bone conduction noise exposure via ventilators in the neonatal intensive care unit. Laryngoscope 2015;125:2388-2392.


Montes J, Glanzman AM, Mazzone ES, Martens WB, Dunaway S, Pasternak A, Riley SO, Quigley J, Pandya S, De Vivo DC, Kaufmann P, Chiriboga CA, Finkel RS, Tennekoon GI, Darras BT, Pane M, Mercuri E, Mcdermott MP; Pediatric Neuromuscular Clinical Research Network, Muscle Study Group, SMA Europe. Spinal muscular atrophy functional composite score: a functional measure in spinal muscular atrophy. Muscle Nerve 2015 Apr 3 [Epub ahead of print].


Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab 2015;100:E355-E359.


Phay M, Kim HH, Yoo S.  Dynamic change and target prediction of axon-specific microRNAs in regenerating sciatic nerve. PLoS One 2015;10:e0137461.


Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC). Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain 2015;138:3180-3192.


Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med 2015;3:248-257.


Tomatsu S, Averill LW, Sawamoto K, Mackenzie WG, Bober MB, Pizarro C, Goff CJ, Xie L, Orii T, Theroux M.  Obstructive airway in Morquio A syndrome: the past, the present, and the future. Mol Genet Metab 2015 Sep 21 [Epub ahead of print].


Tsuda T, Fitzgerald K, Scavena M, Gidding S, Marks H, Flanigan K, Moore SA. Early progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J Hum Genet 2015;60:151-155.



Arpan I, Willcocks RJ, Forbes S, Finkel RS, Lott DJ, Rooney WD, Triplett WT, Senesac CR, Daniels MJ, Byrne BJ, Finanger EL, Russman BS, Wang D, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS. Neurology 2014;83:974-80.


Baghdassarian A, Piatt JH Jr, Giordano K. Fracture of the anterior arch of the atlas following minor trauma of the immature spine post laminectomy. Pediatr Emerg Care 2014;30:340-2.


Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies (Finkel RS). Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014;24:289-311.


Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014;25:R53.


Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Sweeney HL, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'Donnell MW, Peltz SW, McDonald CM; PTC124-GD-007-DMD Study Group. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve 2014;50:477-87.


Butchbach MER, Singh J, Gurney ME, Burghes AHM. The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice. Exp Neurol 2014;256:1-6.


Dayan PS, Holmes JF, Kuppermann N; Traumatic Brain Injury (TBI) Working Group of Pediatric Emergency Care Applied Research Network (PECARN). Isolated loss of consciousness in children with minor blunt head trauma. JAMA Pediatr 2014;168:837-43.


Drummond JC, Krane EJ, Tomatsu S, Theroux MC, Lee RR. Paraplegia after epidural general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Can J Anesth 2014 Oct 17 [Epub ahead of print]


Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology 2014;83:810-7.


Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB. Respiratory muscle function in infants with spinal muscular atrophy type I. Pediatr Pulmonol 2014;49:1234-42.


Finkel TH. Update on rheumatologic disease: juvenile idiopathic arthritis/systemic lupus erythematosus. Audio Digest Pediatr 2014;60:16-8.


Forbes SC, Willcocks RJ, Triplett WT, Rooney WD, Lott DJ, Wang DJ, Pollaro J, Senesac CR, Daniels MJ, Finkel RS, Russman BS, Byrne BJ, Finanger EL, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross-sectional study. PLoS One 2014;9:e106435.


Fragala MS, Fukuda DH, Stout JR, Townsend JR, Emerson NS, Boone CH, Beyer KS, Oliveira LP, Hoffman JR. Muscle quality index improves with resistance exercise training in older adults. Experiment Gerontol 2014;53:1-6.


Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; on behalf of the Inherited Neuropathies Consortium. CMT subtypes and disease burden in patients enrolled in the inherited neuropathies consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 2014 Nov 27 [Epub ahead of print]


Gaballah M, Storm PB, Rabinowitz D, Ichord RN, Hurst RW, Krishnamurthy G, Keller MS, McIntosh A, Cahill AM. Intraoperative cerebral angiography in arteriovenous malformation resection in children: a single institutional experience. J Neurosurg Pediatr 2014;13:222-8.


Kadhim M, Miller F. Pes planovalgus deformity in children with cerebral palsy: review article. J Pediatr Orthop B 2014;23:400-5.


Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC; Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve 2014;49:636-44.


Ma Z, LeBard DN, Loverde SM, Sharp KA, Klein ML, Discher DE, Finkel TH. TCR triggering by pMHC ligands tethered on surfaces via poly (ethylene glycol) depends on polymer length. PLoS One 2014;9:e112292.


Mack SG, Cook DJ, Dhurjati P, Butchbach MER. Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy. PLoS One 2014;9:e115473.


Maeda M, Harris AW, Kingham BF, Lumpkin CJ, Opdenaker LM, McCahan SM, Wang W, Butchbach MER. Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. PLoS One 2014;9:e106818.


Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol 2014;73:425-41.


Piatt JH Jr, Freibott CE. Quality measurement in the shunt treatment of hydrocephalus: analysis and risk adjustment of the revision quotient. J Neurosurg Pediatr 2014;14:48-54.


Piatt JH Jr. Thirty-day outcomes of cerebrospinal fluid shunt surgery: data from the National Surgical Quality Improvement Program: Pediatrics. J Neurosurg Pediatr 2014;14:179-83.


Picoraro JH Jr, Kazak A, Feudtner C. Posttraumatic growth in parents and pediatric patients: a systematic review and synthesis of serious pediatric illness posttraumatic growth. J Palliat Med 2014;17:1-10.


Scanlon TC, Fragala MS, Stout JR, Emerson NS, Beyer KS, Oliveira LP, Hoffman JR. Muscle architecture and strength: adaptations to short-term resistance training in older adults. Muscle Nerve 2014; 49:584-92.


Shea KG, Frick SL. Ankle fractures. In: Flynn J, Skaggs D, Waters P, eds. Rockwood and Wilkins’ Fractures in Children. 8th edn. Lippincott, Williams and Wilkins: Philadelphia. 2014;1173-224.


Stout JR, Fragala MS, Hoffman JR, Ive EH, McCormack WB, Townsend JR, Jatjiner AR, Emerson NS, Oliveira LP, Fukuda DH. C-terminal fragment is inversely related to neuromuscular fatigue in older men. Muscle Nerve 2014 Nov 24 [Epub ahead of print]


Theroux MC, DiCindio S. Major surgical procedures in children with cerebral palsy. Anesthesiol Clin North Am 2014;32:63-81.