SMA Journal Articles

Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Neuromuscul Disord. 2018 Feb;28(2):103-115.
Authors: Eugenio Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T, SMA Care Group

Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Neuromuscul Disord. 2018 Mar;28(3):197-207.
Authors: Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T, SMA Care group

Nusinersen versus sham control in later-onset spinal muscular atrophy.
N Engl J Med. 2018 Feb 15;378(7):625-635.
Authors: Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS, CHERISH Study Group

Nusinersen versus sham control in infantile-onset spinal muscular atrophy.
N Engl J Med. 2017 Nov 2;377(18):1723-1732.
Authors: Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, ENDEAR Study Group

Single-dose gene-replacement therapy for spinal muscular atrophy.
N Engl J Med. 2017 Nov 2;377(18):1713-1722.
Authors: Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK

Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Hum Mol Genet. 2016 Mar 1;25(5):964-75.
Authors: Feng Z, Ling KYK, Zhao X, Zhou C, Karp G, Welch EM, Naryshkin N, Ratni H, Chen KS, Metzger F, Paushkin S, Weetall M, Ko CP

Assays for the identification and prioritization of drug candidates for spinal muscular atrophy.
Assay Drug Dev Technol. 2014 Aug;12(6):315-41
Authors: Cherry JJ, Kobayashi DT, Lynes MM, Naryshkin NN, Tiziano FD, Zaworski PG, Rubin LL, Jarecki J

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Science. 2014 Aug 8;345(6197):688-693
Authors: Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, Ling KK, Karp GM, Qi H, Woll MG, Chen G, Zhang N, Gabbeta V, Vazirani P, Bhattacharyya A, Furia B, Risher N, Sheedy J, Kong R, Ma J, Turpoff A, Lee CS, Zhang X, Moon YC, Trifillis P, Welch EM, Colacino JM, Babiak J, Almstead NG, Peltz SW, Eng LA, Chen KS, Mull JL, Lynes MS, Rubin LL, Fontoura P, Santarelli L, Haehnke D, McCarthy KD, Schmucki R, Ebeling M, Sivaramakrishnan M, Ko CP, Paushkin SV, Ratni H, Gerlach I, Ghosh A, Metzger F

Observational study of spinal muscular atrophy type I and implications for clinical trials.
Neurology. 2014 Jul 30;
Authors: 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

Respiratory muscle function in infants with spinal muscular atrophy type I.
Pediatr Pulmonol. 2014 Apr 29;
Authors: Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
Hum Mol Genet. 2014 Apr 23;
Authors: Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG

Translational Fidelity of Intrathecal Delivery of scAAV9-SMN1 for Spinal Muscular Atrophy.
Hum Gene Ther. 2014 Mar 11;
Authors: Passini MA, Bu J, Richards AR, Treleaven CM, Sullivan JA, O'Riordan CR, Scaria A, Kells AP, Samaranch L, San Sebastian W, Federici T, Fiandaca MS, Boulis NM, Bankiewicz K, Shihabuddin LS, Cheng SH

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.
J Clin Invest. 2014 Jan 27;
Authors: Kariya S, Obis T, Garone C, Akay T, Sera F, Iwata S, Homma S, Monani UR

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients.
Neuromuscul Disord. 2014 Jan 16;
Authors: Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E

Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.
Ann Clin Transl Neurol. 2014 Jan 1;1(1):34-44
Authors: Arnold WD, Porensky PN, McGovern VL, Iyer CC, Duque S, Li X, Meyer K, Schmelzer L, Kaspar BK, Kolb SJ, Kissel JT, Burghes AH

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3'-End Formation of Histone mRNAs.
Cell Rep. 2013 Dec 12;5(5):1187-95
Authors: Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L

Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot study.
Neuromuscul Disord. 2013 Nov 13;
Authors: Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Müller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.
Proc Natl Acad Sci U S A. 2013 Nov 4;
Authors: Zhang Z, Pinto AM, Wan L, Wang W, Berg MG, Oliva I, Singh LN, Dengler C, Wei Z, Dreyfuss G

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
J Neurol. 2013 Oct 27;
Authors: Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H

Leg muscle function and fatigue during walking in spinal muscular atrophy type 3.
Muscle Nerve. 2013 Oct 1;
Authors: Montes J, Dunaway S, Garber CE, Chiriboga CA, De Vivo DC, Rao AK

Pathological impact of SMN2 mis-splicing in adult SMA mice.
EMBO Mol Med. 2013 Sep 9;
Authors: Sahashi K, Ling KK, Hua Y, Wilkinson JE, Nomakuchi T, Rigo F, Hung G, Xu D, Jiang YP, Lin RZ, Ko CP, Bennett CF, Krainer AR

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
Muscle Nerve. 2013 Jul 24;
Authors: Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC, Muscle Study Group (MSG), Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR)

Rasch analysis of clinical outcome measures in spinal muscular atrophy.
Muscle Nerve. 2013 Jul 8;
Authors: Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF, Bérard C, Girardot F, Payan CA, Mercuri E, Mazzone E, Elsheikh B, Florence J, Hynan LS, Iannaccone ST, Nelson LL, Pandya S, Rose M, Scott C, Sadjadi R, Yore MA, Joyce C, Kissel JT, International Coordinating Committee for SMA Clinical Trials Rasch Task Force

Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study.
Neuromuscul Disord. 2013 Jun 25;
Authors: Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, Mayhew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E

Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy
Proc Natl Acad Sci U S A. 2013 Jun 11;
Authors: Sen A, Dimlich DN, Guruharsha KG, Kankel MW, Hori K, Yokokura T, Brachat S, Richardson D, Loureiro J, Sivasankaran R, Curtis D, Davidow LS, Rubin LL, Hart AC, Van Vactor D, Artavanis-Tsakonas S

SMA VALIANT Trial: A prospective, double-blind, placebo controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
Muscle Nerve. 2013 May 16;
Authors: Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb S, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, Lasalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ, For the Project Cure Spinal Muscular Atrophy Investigators' Network