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226    <div class="header-video-container hcp mt-xs-70 mt-md-95" data-age="1">
227        <video poster="/files/posters/eu/sma1_header_HCP.jpg"
228               id="page-header-video"
229               data-age="0"
230               title="Early symptoms of Spinal Muscular Atrophy (SMA) type 1"
231               data-titles="Early symptoms of Spinal Muscular Atrophy (SMA) type 1|Early symptoms of Spinal Muscular Atrophy (SMA) type 2"
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242                        <h1 class="heading-width-3 -white-background ageContent age1 active">LOOK OUT FOR EARLY WARNING SIGNS OF SPINAL MUSCULAR <span class="nowrap">ATROPHY (SMA)<sup>1–3</sup></span></h1>
243                        <h1 class="heading-width-3 -white-background ageContent age2">LOOK OUT FOR EARLY WARNING SIGNS OF SPINAL MUSCULAR <span class="nowrap">ATROPHY (SMA)<sup>1–3</sup></span></h1>
244                        <a class="btn btn-link btn-fuchsia ml-xs-20" href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis" title="Refer for diagnosis">
245                            <div class="slider"><div class="reveal"></div></div>
246                            <div class="cover"></div>
247                            <span class="font-italic">REFER FOR DIAGNOSIS</span>
248                        </a>
249                    </div>
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254
255    <div id="section-what-is-sma" class="container px-0 page-container">
256        <div class="row mt-xs-30 mx-xs-0">
257            <div class="col-xs-12 centered-static">
258                <img src="/files/images/eu/signs_of_sma_turquoise.svg" class="mx-auto d-block content-logo" alt="Signs of SMA">
259            </div>
260        </div>
261
262        <div class="paragraph paragraph-medium paragraph-width-1 paragraph-blue mt-xs-20 row mx-xs-0">
263            <div class="col-xs-12 centered">
264                <p>For babies with SMA fast diagnosis is vital. This is because any lower motor neuron damage occurring
265                    before treatment is irreversible<sup>4,5</sup></p>
266            </div>
267        </div>
268
269        <div class="paragraph paragraph-medium paragraph-width-1 paragraph-blue mt-xs-20 row mx-xs-0">
270            <div class="col-xs-12">
271                <div class="top-hr bg-sma-turquoise-25"></div>
272                <h2 class="mb-xs-4">What is SMA?</h2>
273            </div>
274        </div>
275
276        <div class="paragraph paragraph-blue mt-xs-30 row mx-xs-0 mb-xs-4 mb-lg-0">
277            <div class="col-xs-12 col-lg-4 mb-xs-40">
278                <div class="paragraph-medium">
279                    <p class="mb-xs-4">SMA is a rare, progressive, inherited monogenic disease, characterized by lower motor neuron degeneration and muscle weakness<sup>6–10</sup></p>
280                </div>
281                <div class="paragraph-small">
282                    <p class="mb-xs-4">Untreated, SMA is the 2<sup>nd</sup> most common fatal autosomal recessive disorder after cystic fibrosis<sup>11</sup></p>
283                    <p class="mb-xs-4">SMA remains the leading genetic cause of infant mortality in the absence of therapeutic intervention<sup>5,10</sup></p>
284                    <p>SMA is typically classified into 4 phenotypes (Types 1–4) that range in severity. SMA Types 1 and 2 are the most severe and common forms with onset between birth and 18 months<sup>3,5,10</sup></p>
285                </div>
286            </div>
287            <div class="fact-boxes w2 col-xs-12 col-lg-4 d-flex justify-content-md-center mb-xs-4 mb-lg-0">
288                <div class="fact-box centered col-md-10 mx-md-auto d-flex justify-content-md-center align-items-center pl-xs-0 pl-md-4 text-sma-turquoise">
289                    <div id="hcp-baby" class="svg centered" title="What is spinal muscular atrophy (SMA)"></div>
290                    <p>SMA affects approximately 1 in 10,000 – 12,000 live births and can impact any race or sex<sup>6,12</sup></p>
291                </div>
292            </div>
293            <div class="fact-boxes w2 col-xs-12 col-lg-4 d-flex justify-content-md-center mb-xs-4 mb-lg-0">
294                <div class="fact-box centered col-md-10 mx-md-auto d-flex justify-content-md-center align-items-center pl-xs-0 pl-md-4 text-sma-turquoise">
295                    <div id="hcp-1in58" class="svg centered" title="What is spinal muscular atrophy (SMA)"></div>
296                    <p>Around 1 in 50 people are carriers of the disease mutation<sup>13</sup></p>
297                </div>
298            </div>
299        </div>
300    </div>
301
302    <div class="container-fluid px-xs-0">
303        <div class="image ageContent age1 active mt-20 img1 row mx-xs-0">
304            <div class="col-xs-12 px-xs-0">
305                <img src="/files/images/signs-banner-1.png" height="270" alt="...">
306            </div>
307        </div>
308        <div class="image ageContent age2 mt-20 img1 row mx-xs-0">
309            <div class="col-xs-12 px-xs-0">
310                <img src="/files/images/signs-banner-2.png" height="270" alt="...">
311            </div>
312        </div>
313    </div>
314
315    <div id="section-cause-of-sma" class="container-fluid px-xs-0 bg-sma-turquoise-25">
316        <div class="container px-xs-0">
317            <div class="paragraph paragraph-medium paragraph-width-0 paragraph-blue pt-xs-30 row mx-xs-0">
318                <div class="col-xs-12 mx-md-auto">
319                    <div class="top-hr bg-sma-turquoise-50"></div>
320                    <h2 class="mb-xs-30">Cause of SMA</h2>
321                    <p>SMA is caused by an absent or dysfunctional survival motor neuron 1 (<em>SMN1</em>) gene<sup>14–18</sup></p>
322                </div>
323            </div>
324
325            <div class="paragraph paragraph-small paragraph-black mb-xs-20 mb-md-40 row mx-xs-0">
326                <div class="col-xs-12 mx-md-auto">
327                    <p>The body has a back-up gene, <em>SMN2</em>, however, it is only capable of producing a small amount of
328                        functional SMN protein, which is insufficient for motor neuron survival and
329                        function<sup>6,14,15,17,18</sup></p>
330                </div>
331            </div>
332
333            <div id="differenceTabs" class="tabgroup hcp row mx-xs-0 mb-xs-40 pt-xs-60 pt-md-40">
334                <div class="tabgroup-heading mt-30 col-xs-12">
335                    <p class="d-block d-md-none tabgroup-label mb-xs-10 text-sma-blue">
335Click to see the difference:</p>
336                    <ul class="nav nav-tabs tab-turquoise" role="tablist">
337                        <li role="presentation" class="tab-item tab1 active">
338                            <a data-tab="#diffTab1" aria-controls="tab1" role="tab" data-toggle="tab">Unaffected individual</a>
339                        </li>
340                        <li role="presentation" class="tab-item tab2">
341                            <a data-tab="#diffTab2" aria-controls="tab2" role="tab" data-toggle="tab">Affected individual</a>
342                        </li>
343                    </ul>
344                </div>
345                <div class="tabgroup-content mt-xs-40 col-xs-12 p-xs-4">
346                    <div id="diffTab1" class="row tab-padded tab-pane show active" role="tabpanel"
347                         aria-labelledby="nav-difference-unaffected-tab">
348                        <div class="col-ds-5 col-xs-12 pt-md-20 pl-md-50">
349                            <h3 class="underline">Unaffected individual:</h3>
350                            <ul class="styled-list">
351                                <li><p class="small">SMN protein is critical for neuronal survival and neuromuscular junction
352                                        formation<sup>15</sup>
353                                    <p></li>
354                                <li><p class="small"><em>SMN1</em> is the primary gene that encodes SMN protein with
355                                        <em>SMN2</em> as a back-up<sup>15,19</sup></p></li>
356                            </ul>
357                            <div class="diff-key d-xs-none d-ds-block ml-ds-50">
358                                <div class="key-item">
359                                    <div class="circle bg-sma-fuchsia"></div>
360                                    <div class="circle bg-sma-turquoise"></div>
361                                    <p class="small">Functional SMN protein</p>
362                                </div>
363                                <div class="key-item">
364                                    <div class="circle bg-sma-fuchsia-25 q3"></div>
365                                    <div class="circle bg-sma-turquoise-25 q3"></div>
366                                    <p class="small">Non-functional SMN protein</p>
367                                </div>
368                            </div>
369                        </div>
370                        <div class="col-lg-6 col-ds-7 mx-xs-0 mx-lg-auto pb-ds-30 col-xs-12">
371                            <video poster="/files/posters/eu/Unaffected-Individual.jpg" title="Cause of spinal muscular atrophy (SMA) in unaffected individual" playsinline webkit-playsinline muted loop class="mb-30 video-js">
372                                <source src="/files/video/eu/Unaffected_Individual_V02.mp4" type="video/mp4">
373                            </video>
374                            <div class="d-xs-block d-ds-none mb-xs-20 mb-ds-0 diff-key">
375                                <div class="key-item">
376                                    <div class="circle bg-sma-fuchsia"></div>
377                                    <div class="circle bg-sma-turquoise"></div>
378                                    <p class="small">Functional SMN protein</p>
379                                </div>
380                                <div class="key-item">
381                                    <div class="circle bg-sma-fuchsia-25 q3"></div>
382                                    <div class="circle bg-sma-turquoise-25 q3"></div>
383                                    <p class="small">Non-functional SMN protein</p>
384                                </div>
385                            </div>
386                        </div>
387                    </div>
388                    <div id="diffTab2" class="row tab-padded tab-pane p-xs-0" role="tabpanel"
389                         aria-labelledby="nav-difference-affected-tab">
390                        <div class="col-ds-5 col-xs-12 pt-md-20 pl-md-50">
391                            <h3 class="underline">Affected individual:</h3>
392                            <ul class="styled-list">
393                                <li><p class="small"><em>SMN1</em> gene is absent or dysfunctional<sup>14–17</sup></p></li>
394                                <li><p class="small"><em>SMN2</em> alone is unable to produce sufficient SMN protein<sup>6,14,15,18</sup>
395                                    </p></li>
396                                <li><p class="small">SMN protein deficiency leads to irreversible neuronal degeneration and loss
397                                        of muscle function in SMA<sup>5,14,15</sup></p></li>
398                            </ul>
399                            <div class="diff-key ml-ds-50 d-xs-none d-ds-block ml-ds-50">
400                                <div class="key-item">
401                                    <div class="circle bg-sma-turquoise"></div>
402                                    <p class="small">Functional SMN protein</p>
403                                </div>
404                                <div class="key-item">
405                                    <div class="circle bg-sma-turquoise-25 q3"></div>
406                                    <p class="small">Non-functional SMN protein</p>
407                                </div>
408                            </div>
409                        </div>
410                        <div class="col-lg-6 col-ds-7 mx-xs-0 mx-lg-auto pb-ds-30 col-xs-12">
411                            <video poster="/files/posters/eu/Affected-Individual.jpg" title="Cause of spinal muscular atrophy (SMA) in affected 
411individuals" playsinline webkit-playsinline muted loop class="mb-30 video-js">
412                                <source src="/files/video/eu/Affected_Individual_V02.mp4" type="video/mp4">
413                            </video>
414                            <div class="diff-key d-xs-block d-ds-none mb-xs-20 mb-ds-0">
415                                <div class="key-item">
416                                    <div class="circle bg-sma-turquoise"></div>
417                                    <p class="small">Functional SMN protein</p>
418                                </div>
419                                <div class="key-item">
420                                    <div class="circle bg-sma-turquoise-25 q3"></div>
421                                    <p class="small">Non-functional SMN protein</p>
422                                </div>
423                            </div>
424                        </div>
425                    </div>
426                </div>
427            </div>
428        </div>
429    </div>
430
431    <div id="section-stopping-neuronal-loss" class="container-fluid px-xs-0">
432        <div class="container px-xs-0">
433            <div class="paragraph paragraph-medium paragraph-width-0 paragraph-blue pt-xs-30 row mx-xs-0">
434                <div class="col-xs-12 mx-md-auto">
435                    <div class="top-hr bg-sma-turquoise-50"></div>
436                    <h2 class="mb-30">STOPPING NEURONAL LOSS</h2>
437                    <p>Loss of motor neurons in SMA is irreversible<sup>4,5</sup></p>
438                </div>
439            </div>
440
441            <div id="ageTabs1" class="tabgroup hcp row pt-xs-80 pt-md-40 mt-xs-10 mb-xs-0 mb-md-40 mt-md-40 mx-xs-0 ageTabs">
442                <div class="tabgroup-heading mt-30 col-xs-12 px-xs-0">
443                    <ul class="nav nav-tabs" role="tablist">
444                        <li role="presentation" class="tab-item tab1 age1 active">
445                            <a data-tab=".age1" aria-controls="tab1" role="tab" data-toggle="tab">Age 0–6 months</a>
446                        </li>
447                        <li role="presentation" class="tab-item tab2 age2">
448                            <a data-tab=".age2" aria-controls="tab2" role="tab" data-toggle="tab">Age 6–18 months</a>
449                        </li>
450                    </ul>
451                </div>
452                <div class="tabgroup-content mb-30 col-xs-12 px-xs-20">
453                    <div id="ageTab1" class="age1 row mx-xs-0 px-md-30 tab-padded tab-pane show active" role="tabpanel">
454                        <div class="col-xs-12 col-lg-6 mb-xs-30 px-xs-0">
455                            <h3 class="underline mx-auto">Disease progression</h3>
456                            <p class="small mb-xs-10">More than 90% of untreated patients with SMA Type 1 will not survive or will need permanent ventilatory support by 2 years of age<sup>20</sup></p>
457                            <p class="small mb-xs-10">Every delay in the diagnosis of SMA Type 1 can jeopardize lower motor neuron survival,<sup>4</sup> directly impacting neuromuscular function<sup>21</sup></p>
458                            <p class="small"><strong>Your rapid referral is crucial to halt or delay disease progression, and enable your patient access to the best available care<sup>4,10,22</sup></strong></p>
459                        </div>
460                        <div class="d-none d-lg-block col-lg-6"></div>
461                        <div class="col-xs-12 mb-xs-30 px-xs-0">
462                            <div id="hcp-01-d-01" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 disease progression in infant 0-6 months"></div>
463                            <div id="hcp-01-m-01" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 disease progression in infant 0-6 months"></div>
464                            <div class="row mx-xs-0">
465                                <div class="col-md-4 col-xs-12 px-xs-0 mb-md-0 mb-xs-4">
466                                    <div class="snr-key">
467                                        <div>
468                                            <div class="circle bg-sma-blue"></div>
469                                            <p class="smaller">PNCR: SMA Type 1 survival rates*</p>
470                                        </div>
471                                        <div>
472                                            <div class="circle bg-sma-fuchsia"></div>
473                                            <p class="smaller">NeuroNext: SMA Type 1 survival rates*</p>
474                                        </div>
475                                    </div>
476                                </div>
477                                <div class="notes col-md-8 col-xs-12 px-xs-0 mb-xs-4">
478                                    <p class="footnote pl-xs-0 pl-md-4">PNCR, Pediatric Neuromuscular Clinical Research</p>
479                                    <p class="footnote pl-xs-0 pl-md-4">*Event-free survival for PNCR = no death, and no need
480                                        for ≥16 hours/day ventilation continuously for 14 days, in the absence of an acute
481                                        reversible illness;<sup>20</sup> n=23 (Type 1 patients with 2 copies of <em>SMN</em><sup>2</sup>). Survival for
482                                        NeuroNext = no death, or no intubation; n=20<sup>21</sup></p>
483                                    <p class="footnote pl-xs-0 pl-md-4">Adapted from Anderton RS and Mastaglia FL. 2015<sup>15</sup>,
484                                        Finkel RS. 2013<sup>24</sup>, Finkel RS, <em>et al</em>. 2014<sup>20</sup> and Kolb SJ, <em>et al</em>.
485                                        2017<sup>21</sup></p>
486                                </div>
487                            </div>
488                        </div>
489                    </div>
490                    <div id="ageTab2" class="age2 row mx-xs-0 px-md-30 tab-padded tab-pane" role="tabpanel">
491                        <div class="col-lg-5 col-xs-12 pb-xs-20 px-xs-0 pr-md-4">
492                            <h3 class="underline">Disease progression</h3>
493                            <p class="small mb-xs-10">While patients diagnosed with SMA Type 2 (with disease onset between 6–18
494                                months of age) may possibly reach motor milestones in the first years of life, all patients will
495                                show a clear and progressive decline with long-term follow-up<sup>8</sup></p>
496                            <p class="small mb-xs-10">Every delay in the diagnosis of SMA can jeopardize lower motor neuron
497                                survival,<sup>4</sup> directly impacting neuromuscular function<sup>4,10,22</sup></p>
498                            <p class="small mb-xs-10"><strong>
498Your rapid referral is crucial to halt or delay disease
499                                    progression, and enable your patient access to the best available
500                                    care<sup>4,10,22</sup></strong></p>
501                        </div>
502                        <div class="col-lg-7 col-xs-12 pb-xs-30 px-xs-0 pt-lg-60 pl-md-4">
503                            <div id="hcp-01-d-02" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 2 disease progression in infant 6-18 months"></div>
504                            <div id="hcp-01-m-02" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 2 disease progression in infant 6-18 months"></div>
505                            <div class="ml-xs-0 pl-md-9pc pl-xs-5pc">
506                                <p class="footnote mt-xs-10">TIMPSI: Average Test of Infant Motor Performance Screening Items</p>
507                                <p class="footnote mt-xs-2">Adapted from Kolb SJ, <em>et al</em>. 2017<sup>21</sup></p>
508                            </div>
509                        </div>
510                    </div>
511                </div>
512            </div>
513        </div>
514    </div>
515    
516    <div id="section-importance-of-early-diagnosis" class="container-fluid px-xs-0 bg-sma-turquoise-10 overflow-hide-x">
517        <div class="container px-xs-0">
518            <div class="paragraph paragraph-medium paragraph-blue py-xs-30 pb-xs-0 pb-md-30 row">
519                <div class="col-xs-12">
520                    <div class="top-hr bg-sma-turquoise-50"></div>
521                    <h2 class="mb-md-30">IMPORTANCE OF EARLY DIAGNOSIS</h2>
522                    <p>Fast diagnosis of SMA is vital, as damage that occurs before treatment is
523                        irreversible<sup>4,5</sup></p>
524                </div>
525            </div>
526            <div class="row mx-xs-0">
527                <div class="col-xs-12 p-md-4 pt-xs-20 pb-xs-0 mx-md-auto mb-xs-0 mb-md-30 bg-white">
528                    <div class="row mx-auto mb-xs-0">
529                        <div class="col-lg-5 col-ds-6 col-xs-12 pt-md-20 pl-ds-50 pr-xs-0 pr-lg-4">
530                            <h3 class="underline">Early diagnosis of SMA is critical to:<sup>25–27</sup></h3>
531                            <ul class="styled-list">
532                                <li><p class="small">Begin optimal therapeutic intervention and management strategies</p></li>
533                                <li><p class="small">Relieve the stress and burden experienced by patients and caregivers</p></li>
534                            </ul>
535                            <p class="note small mt-xs-30 mb-xs-20">
536                                <strong>Research suggests early medical intervention provides the most benefit in
537                                    SMA<sup>10,22,28</sup></strong>
538                            </p>
539                        </div>
540                        <div class="col-lg-7 col-ds-6 col-xs-12 pt-md-20 pr-ds-50">
541                            <div id="hcp-01-d-03" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 diagnosis timeline"></div>
542                            <div id="hcp-01-m-03" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 diagnosis timeline"></div>
543                            <p class="smallest mt-xs-10">Adapted from Serra-Juhe C and Tizzano EF, 2019<sup>19</sup></p>
544                        </div>
545                    </div>
546                    <div class="row clip mb-xs-0 pb-md-40 py-xs-0 py-md-30">
547                        <div class="cta-row col-xs-12 mx-xl-auto pb-xs-20 mx-xs-0 px-xs-0">
548                            <div class="call-to-action" title="Early action could limit the irreversible damage associated with SMA (4,5,10,29)">
549                                <span>Your early action could limit the irreversible damage associated with SMA<sup>4,5,10,29</sup></span>
550                                <div class="clock scroll-on-show"></div>
551                            </div>
552                        </div>
553                    </div>
554                </div>
555            </div>
556        </div>
557    </div>
558
559    <div class="container-fluid px-0 references-container">
560        <div class="container">
561            <div class="references row mx-xs-0">
562                <div class="references-header col-xs-12 px-xs-0">
563                    <div class="references-header-title">
564                        <div class="references-toggle"></div>
565                        <p>References</p>
566                    </div>
567                </div>
568            </div>
569        </div>
570    </div>
571    <div class="container-fluid px-0 bg-sma-turquoise-5 mb-xs-40">
572        <div class="container px-xs-0">
573            <div class="references row mx-xs-0">
574                <div class="col-xs-12">
575                    <div class="row px-xs-0">
576                        <div class="references-body col-xs-12 px-md-0 px-xs-0 text-sma-black-50">
577                            <p class="mt-xs-30">NMD, Neuromuscular disease.</p>
578                            <h6>References</h6>
579                            <ul>
580                                <li><strong>1.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i>  2015;33(4):831–46.</li>
581                                <li><strong>2.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i>
581 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al.</i>, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.</li>
582                                <li><strong>3.</strong> Wang CH, <i>et al.</i> <i>J Child Neurol.</i> 2007;22(8):1027–49.</li>
583                                <li><strong>4.</strong> Govoni A, <i>et al.</i> <i>Mol Neurobiol.</i> 2018;55(8):6307–18.</li>
584                                <li><strong>5.</strong> Glascock J, <i>et al.</i> <i>J Neuromuscul Dis.</i> 2018;5(2):145–58.</li>
585                                <li><strong>6.</strong> Verhaart IEC, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2017;12:124.</li>
586                                <li><strong>7.</strong> Richter T, <i>et al.</i> <i>Value Health.</i> 2015;18(6):906–14.</li>
587                                <li><strong>8.</strong> Mercuri E, <i>et al.</i> <i>Neurology.</i> 2019;93(13):e1241–7.</li>
588                                <li><strong>9.</strong> Mercuri E, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2020;15(1):84.</li>
589                                <li><strong>10.</strong> Schorling DC, <i>et al.</i> <i>J Neuromuscl Dis.</i> 2020;7:1–13.</li>
590                                <li><strong>11.</strong> D’Amico A, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2011;6:71.</li>
591                                <li><strong>12.</strong> Cure SMA (2023). About SMA. Available at: <a href="https://www.curesma.org/about/" target="_blank">https://www.curesma.org/about/</a>. Date accessed: November 2023.</li>
592                                <li><strong>13.</strong> Verhaart IEC, <i>et al.</i> Additional file 2: Table S1. Overview carrier frequencies of SMA. Supplementary material to Verhaart IEC, <i>et al.</i> Orphanet J Rare Dis. 2017;12:124. Available at: <a href="https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8" target="_blank">https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8</a>. Date accessed: November 2023.</li>
593                                <li><strong>14.</strong> Coovert DD, <i>et al.</i> <i>Hum Mol Genet.</i> 1997;6(8):1205–14.</li>
594                                <li><strong>15.</strong> Anderton RS and Mastaglia FL. <i>Expert Rev Neurother.</i> 2015;15(8):895–908.</li>
595                                <li><strong>16.</strong> Lefebvre S, <i>et al.</i> <i>Cell.</i> 1995;80:155–65.</li>
596                                <li><strong>17.</strong> National Institute for Health (NIH) (2020a). Genetics home reference. Your guide to understanding genetic conditions. <i>SMN1</i> gene. Available at: <a href="https://ghr.nlm.nih.gov/gene/SMN1" target="_blank">https://ghr.nlm.nih.gov/gene/SMN1</a>. Date accessed: November 2023.</li>
597                                <li><strong>18.</strong> NIH (2020b). Genetics home reference. Your guide to understanding genetic conditions. <i>SMN2</i> gene. Available at: <a href="https://ghr.nlm.nih.gov/gene/SMN2" target="_blank">https://ghr.nlm.nih.gov/gene/SMN2</a>. Date accessed: November 2023.</li>
598                                <li><strong>19.</strong> Serra-Juhe C and Tizzano EF. <i>Eur J Hum Genet.</i> 2019;27(12):1774–82.</li>
599                                <li><strong>20.</strong> Finkel RS, <i>et al.</i> <i>Neurology.</i> 2014;83(9):810–7.</li>
600                                <li><strong>21.</strong> Kolb SJ, <i>et al.</i> <i>Ann Neurol.</i> 2017;82(6):883–91.</li>
601                                <li><strong>22.</strong> Kirschner J, <i>et al.</i> <i>Eur J Paediatr Neurol.</i> 2020;28:38–43. Published online ahead of print.</li>
602                                <li><strong>23.</strong> Swoboda KJ, <i>et al.</i> <i>Ann Neurol.</i> 2005;57(5):704–12.</li>
603                                <li><strong>24.</strong>  Finkel RS. <i>Neuromuscul Disord.</i> 2013;23(2):112–5.</li>
604                                <li><strong>25.</strong> Qian Y, <i>et al.</i> <i>BMC Neurol.</i> 2015;15:217.</li>
605                                <li><strong>26.</strong> Mammas IN and Spandidos DA. <i>Exp Ther Med.</i> 2018;15:3673–9.</li>
606                                <li><strong>27.</strong> Lurio JG, <i>et al.</i> <i>Am Fam Physician.</i> 2015;91(1):38–44.</li>
607                                <li><strong>28.</strong> Waldrop MA and Elsheikh BH. <i>Neurol Clin.</i> 2020;38(3):505–18.</li>
608                                <li><strong>29.</strong> Lowes LP, <i>et al.</i> <i>Pediatr Neurol. </i>2019;98:39–45. </li>
609                            </ul>
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700
701    
701<script src="/themes/sma/js/main_v3.js?d=202401190956"></script>
701
702</body>
703</html>

Line numbers count LF bytes from the start of the resource, as the search results do. Vendor segments are library code the classifier recognised; they are stored but not indexed. Bytes are shown as Latin1 characters, one per byte.