The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
Identifieur interne : 001055 ( PascalFrancis/Checkpoint ); précédent : 001054; suivant : 001056The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
Auteurs : Nee K. Chew [Royaume-Uni] ; Pablo Mir [Royaume-Uni, Espagne] ; Mark J. Edwards [Royaume-Uni] ; Carla Cordivari [Royaume-Uni] ; Davide Martino [Royaume-Uni, Italie] ; Susanne A. Schneider [Royaume-Uni] ; Hee-Tae Kim [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
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Abstract
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
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Chew</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Servicio de Neurologia, Hospital Universitario Virgen del Rocio</s1><s2>Seville</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. 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Schneider</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0115904</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0115904 INIST</idno><idno type="RBID">Pascal:08-0115904</idno><idno type="wicri:Area/PascalFrancis/Corpus">001409</idno><idno type="wicri:Area/PascalFrancis/Curation">001910</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001055</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases</title><author><name sortKey="Chew, Nee K" sort="Chew, Nee K" uniqKey="Chew N" first="Nee K." last="Chew">Nee K. Chew</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Servicio de Neurologia, Hospital Universitario Virgen del Rocio</s1><s2>Seville</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>National Hospital for Neurology and Neurosurgery, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurological and Psychiatric Sciences, University of Bari</s1><s3>ITA</s3><sZ>5 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Department of Neurological and Psychiatric Sciences, University of Bari</wicri:noRegion></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term><term>Myoclonus</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Myoclonie</term><term>Pathologie du système nerveux</term><term>Etude cas</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>23</s2></fA05><fA06><s2>1</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases</s1></fA08><fA11 i1="01" i2="1"><s1>CHEW (Nee K.)</s1></fA11><fA11 i1="02" i2="1"><s1>MIR (Pablo)</s1></fA11><fA11 i1="03" i2="1"><s1>EDWARDS (Mark J.)</s1></fA11><fA11 i1="04" i2="1"><s1>CORDIVARI (Carla)</s1></fA11><fA11 i1="05" i2="1"><s1>MARTINO (Davide)</s1></fA11><fA11 i1="06" i2="1"><s1>SCHNEIDER (Susanne A.)</s1></fA11><fA11 i1="07" i2="1"><s1>KIM (Hee-Tae)</s1></fA11><fA11 i1="08" i2="1"><s1>QUINN (Niall P.)</s1></fA11><fA11 i1="09" i2="1"><s1>BHATIA (Kailash P.)</s1></fA11><fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="02"><s1>Servicio de Neurologia, Hospital Universitario Virgen del Rocio</s1><s2>Seville</s2><s3>ESP</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>National Hospital for Neurology and Neurosurgery, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurological and Psychiatric Sciences, University of Bari</s1><s3>ITA</s3><sZ>5 aut.</sZ></fA14><fA20><s1>107-113</s1></fA20><fA21><s1>2008</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000161904810160</s5></fA43><fA44><s0>0000</s0><s1>© 2008 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>31 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>08-0115904</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Myoclonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Myoclonus</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Mioclonia</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Etude cas</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Case study</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Estudio caso</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fN21><s1>063</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Espagne</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Chew, Nee K" sort="Chew, Nee K" uniqKey="Chew N" first="Nee K." last="Chew">Nee K. Chew</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></country><country name="Espagne"><noRegion><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= The Natural History of Unverricht-Lundborg Disease : A Report of Eight Genetically Proven Cases
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