Disciplina Neurologie Pediatrica II

Prof. Univ. Craiu Dana-Cristina titular
Conf. Univ. Iliescu Mihaela Catrinel titular
Sef Lucrari Minciu Ioana titular
Asist. Univ. Pomeran Cristina determinat
Asist. Univ. Butoianu Niculina titular
Asist. Univ. Tarta-Arsene Oana titular
Asist. Univ. Barca Diana-Gabriela titular
Asist. Univ. Motoescu Cristina-Haritina titular
Asist. Univ. Sandu Carmen determinat
Asist. Univ. Dica Alice Denisa determinat

Disciplina de Neurologie Pediatrica a fost creata in urma cu 20 de ani, in 1996 sub conducerea Prof. Dr. Sanda Magureanu, pornind la drum cu o echipa de inca 2 cadre didactice: Dr Ioana Minciu si Dr Dana Craiu. In prezent Disciplina are 8 posturi (Profesor, Conferentiar, Sef Lucrari si 5 As. Univ.). Toate cadrele didactice sunt medici primari in specialitatea Neurologie Pediatrica, doctori in stiinte medicale.

Pacienti evaluati – varste 0-18 ani.

Medicii clinicii sunt supraspecializati in domenii ale Neurologiei Pediatrice (majoritatea cu stagii efectuate in clinici de prestigiu in strainatate): epileptologie (inclusiv evaluare prechirurgicala pentru chirurgia epilepsiei), boli neuro-musculare, boli neurometabolice, boli inflamatorii si demielinizante, boli rare, etc.

Exista un Compartiment de recuperare si kinetoterapie

Centrul a fost acreditat de Ministerul Sanatatii ca Centru de referinta de boli rare Neurologice Pediatrice cu specificatie pe:

  • boli neuro-musculare (inclusiv Distrofia Musculara Duchenne, Becker, Amiotrofii spinale)
  • boli neurocutanate (inclusiv Neurofibramatozele, Complexul Sclerozei Tuberoase, etc)
  • boli neurometabolice (inclusiv bolile neuroendocrine)
  • boli neuroinflamatorii ale sistemului nervos central si periferic (inclusiv scleroza multipla, sindromul Guillaine Barre, encefalite autoimune, etc.)
  • boli neurovasculare
  • sindroame epileptice rare (inclusiv sindromul Dravet, epilepsii rare de cauze inflamatorii sau malformative care necesita investigare prechirurgicala pentru chirurgia epilepsiei)
  • boli genetice cromozomiale
  • malformatii cerebrospinale
  • sindrom Rett

Au fost dezvoltate serviciide:

  • electroencefalografie si video-electroencefalografie, inclusiv EEG de somn si de lunga durata
  • electromiografie
  • evaluare psihologica/ neuropsihologica; terapie cognitiv-comportamentala
  • evaluare recuperare si kinetoterapie
  • administrare toxina botulinica

In clinica se desfasoara 5 Programe Nationale de sanatate:

  • PN de tratament al sclerozei multiple la copil
  • PN de tratament al sclerozei tuberoase la copil
  • PN de tratament cu imunoglobuline al bolilor demielinizante la copil (poliradiculonevrite acute si cronice, boala Rasmusssen, scleroza multipla sub 12 ani)
  • PN de diagnostic prcoce (inclusiv genetic) si preventie a Distrofiei Musculare Duchenne
  • PN de diagnostic prcoce si preventie al epilepsiilor, paraliziilor cerebrale si intarzierilor mintale

Toate cadrele didactice sunt implicate in activitati educationale si cercetare stiintifica si de asemenea de autoperfectionare continua.

La nivelul disciplinei se realizeaza:

  1. Cursuri postuniversitare pentru medici neurologi pediatri, pediatri, medici de familie, etc. (a se vedea lista cursurilor postuniversitare).
  2. Cursuri optionale pentru studentii anului VI ( a se vedea lista si curricula cursurilor optionale).

 

Medicii Disciplinei de Neurologie Pediatrica sunt membri in conducerea unor asociatii profesionale nationale si internationale, si ca urmare sunt implicati in actiuni educationale si de cercetare desfasurate in aceste asociatii, majoritatea fiind efectuate sub tutela UMF “Carol Davila”:

  • Dr. Dana Craiu:
    • Presedinte Societatea Romana Impotriva Epilepsiei (SRIE: ilae-romania.ro)
    • Presedinte al Comisiei de educatie si formare din cadrul Societatii Romane de Neurologie Pediatrica (SRNP: srnp.ro)
    • Membra in Boardul EPNS (European Pediatric Neurology Society)
    • Chair CNA (Comisia Europeana a advisorilor nationali pentru Neurologie Pediatrica)
    • Chair TAB (Comisia Europeana de training in Neurologia Pediatrica)
    • Membra in CEA-ILAE (Comisia Afacerilor Europene a Ligii Internationale Impotriva Epilepsiei)
  • Sef Lucrari Dr. Ioana Minciu: Trezorier al SRNP
  • As Univ. Diana Barca – membru in Comisia Stiintifica s SRNP
  • Univ. Dr. Cristina Motoescu – Membru in Comisia de Educatie si formare a SRNP
  • As Univ Dr. Catrinel Iliescu:
    • Presedinta Comisiei stiintifice a SRNP
    • Membru in conducerea Colegiului Medicilor Bucuresti
  • As Univ. Dr. Oana Tarta Arsene – Secretar al SRIE
  • Univ. Niculina Butoianu – Secretar SRNP

Ca urmare a acestor indatoriri, membrii Disciplinei de Neurologie Pediatrica au participat si participa la organizarea:

  • USSM de Neurologie Pediatrica (organizator Catrinel Iliescu)
  • Conferinta Societatii Romane de Neurologie Pediatrica (din 2013 – la 2 ani) – a se vedea srnp.ro (directori de conferita – Carmen Burloiu, Dana Craiu; in comitetul de organizare au participat si ceilalti medici ai clinicii)
  • Conferinta Societatii Romane Impotriva EPILEPSIEI anual (ilae-romania.ro)
  • Scoala de vara a SRIE – anual (director conferinta – Dana Craiu)
  • Workshop de boli neuro-musculare cu participare internationala – Dr Laurent Servais de la Institutul de Miologie Paris (organizator Niculina Butoianu) – annual din 2011 – present
  • Workshop de boli neurometabolice si malformatii cerebrale, cu participare internationala – Prof Linda de Meirleir si Prof Anna Janssen (organizatori – Catrinel Iliescu si Diana Barca)
  • Cursurile Societatii Europene de Neurologie Pediatrica – s-au efectuat intre 2009-2011 in Romania (6 cursuri in 3 ani consecutivi (Organizator Dana Craiu)
  • Conferinta Europeana de cercetare in Neurologia Pediatrica – 2014 – Bucuresti (Organizator Dana Craiu)
  • Cursul Est-European de Epileptologie – Cheile Gradistei, Romania (2014, 2016) – director de curs Dana Craiu alaturi de colegi straini, sub egida CEA-ILAE

La nivelul Departamentului Relatii Internationale a UMF Carol Davila, s-a incheiat in 2016 (Prorector Prof. Dr. Bogdan Popescu) un protocol de colaborare cu Universitatea din Bruxelles pornind de la colaborarea preexistenta dintre Clinica de Neurologie Pediatrica Obregia si UZ Brussel – departamentul de boli Neurometabolice, cu schimburi bilaterale – bursa a Dr Diana Barca in UZ Brussel si venire Prof. Dr. Linda de Meirleir si Prof. Dr Anna Janssen ca profesori invitati.

Activitatea de cercetare consta in:

  • Studii clinice – in present sunt in desfasurare 3 studii clinice in Disciplina noastra (de-a lungul anilor s-au desfasurat peste 25 studii)
  • Cercetare cu studentii care efectueaza lucrari de diploma (in medie 3/an)
  • Cercetare cu fonduri Europene sau Romanesti (a se vedea lista restransa de proiecte prezentata mai jos)
  • Proiecte de crestere a capacitatii de cercetare – POS-DRU – proiect INFOACT – incheiat

 DESCARCA Curs-pals

Programa analitica studenti romani
Modul obligatoriu Neurologie Pediatrica – 2 saptamani (12 ore curs si 30 ore LP)
Cursuri: 12 ore

  1. Epilepsie (1) – curs – 1h
  2. Epilepsie (2) – curs – 1h
  3. Status epilepticus (30 min); Sindroame neurocutanate (90 min) – curs – 2h
  4. Boli neuromusculare – curs – 2h
  5. Malformatii ale SNC – curs – 2h
  6. Fenomene paroxistice neepileptice + convulsii febrile – curs – 1h
  7. Sindromul de hipertensiune intracraniana (30 min); hidrocefalie (30 min); EHIP (encefalopatie hipoxic-ischemica perinatala) (60 min) – curs – 2h
  8. Paraliziile cerebrale (30 min); Cefaleea (30 min) – curs – 1h

Practica clinica Neurologie Pediatrica – 30 h

  1. Examinarea clinica neurologica – nou-nascut– demonstrare pe cazuri reale/filme – 1h
  2. Examinarea clinica neurologica – prescolar – demonstrare pe cazuri reale/filme – 1h
  3. Examinarea clinica neurologica – copil mare (similar adultului) – demonstrare pe cazuri reale/filme – 1h
  4. Dezvoltarea pe etape– 2h
  5. Sesiune video – evenimente paroxistice – 2h
  6. Quiz – neurologie pediatrica – 2h
  7. Practica la patul pacientului – 21h

Analytical programme
Pediatric Neurology(Obligatory module)
English module – 2 weeks (12 h course + 30 h practical)
Courses: 12 hours
 

  1. Epilepsy (1) – course – 1h
  2. Epilepsy (2) – course – 1h
  3. Epileptic status (30 min); neurocutaneuous syndromes (90 min) – course – 2h
  4. Neuromuscular diseases – course – 2h
  5. Malformations of CNS – course – 2h
  6. Nonepileptic paroxistic events + febrile seizures – course – 1h
  7. Intracranian hypertension syndrome (30 min); hidrocephaly (30 min); hipoxic-ischemic encephalopathy (60 min) – course – 2h
  8. Cerebral palsy (30 min); headache (30 min) – course – 1h

Clinical Practice – 30 h

  1. Clinical Neurological examination – newborn – demonstration on real cases/ films – 1h
  2. Clinical Neurological examination – toddler – demonstration on real cases/ films – 1h
  3. Clinical Neurological examination – big child (similar to adult) – demonstration on real cases/ films – 1h
  4. Milestones achievement – 2h
  5. Video-session – paroxystic events – 2h
  6. Quiz – pediatric neurology – 2h
  7. Practice on patient’s bedside – 21h

Programa analitica studenti romani – curs OPTIONAL
Curs EEG – notiuni de baza pentru studenti (elemente teoretice si practice)
– modul de 2 saptamani studenti Romani (anul V, anul VI)
– numar maxim 40 studenti, minim 5 studenti
– cursuri – 10 h, practica 10 h
Cursuri: 10 h (2h/zi)

  1. Istoric; Ce este EEG?; aparatura; electrozi; setari, filter; plasare electrozi; montaje (2h)
  2. EEG normal; unde; ritmuri; EEG la copil – maturatie; EEG la adultul normal; EEG de somn (2h)
  3. EEG anormal: aspecte generale; EEG in epilepsie (2h)
  4. EEG anormal: EEG in diferite boli neurologice (2h)
  5. Cum citim un EEG : protocol; exemple (2h)

Practica clinica – 10 h (2h/zi)

  1. Montajul 10-20
  2. Aspecte practice – plasarea electrozior (bridge, cup)
  3. Cum manevram aparatul EEG – setare, inregistrare, oprire
  4. Cum inregistram un pacient EEG?
  5. Pasii de urmat in inregistrarile EEG, inclusive stimulari (HV, SLI)
  6. Quiz – EEG

Analytical programme – OPTIONAL course
Basic EEG course for students(theoretical and practical elements)
– English module (Vth and VIth year students)
– 2 weeks module (Optional course)
– courses – 10 h, practical 10 h
Maximum 40 students, minimum 5 students
 
Courses: 10 hours

  1. Hystorical notes; what is EEG?; machine; electrodes; electrodes placement; montages; Machine parameters – how to adapt; (2h)
  2. Normal EEG; waves; rhythms; EEG in childhood – maturation; Normal adult EEG; sleep EEG (2h)
  3. Abnormal EEG: general issues; EEG in epilepsy (2h)
  4. Abnormal EEG: EEG in different neurological diseases (2h)
  5. How to read an EEG : protocol; examples (2h)

Clinical Practice – 30 h

  1. EEG 10-20 montage
  2. Practical issues – EEG placing (bridge, cups)
  3. How to manipulate EEG machine
  4. How to handle a pediatric patient
  5. Steps in EEG recording
  6. Quiz – EEG – 1h

Programa analitica curs optional studenti romani
Neurologia Pediatrica la camera de garda – notiuni practice bazat pe cazuri clinice
– modul de 2 saptamani studenti Romani (anul V, anul VI)
– numar maxim 40 studenti, minim 5 studenti
– cursuri – 10 h, practica 10 h
Cursuri: 10 h (2h/zi)

  1. Copilul cu cefalee – cum recunosc cand e ceva grav?
  2. Copilul cu pierdere de constienta
  3. Statusul epileptic – teorie si practica
  4. Fenomene paroxistice la copil – discutii teoretice pe baza inregistrarilor video
  5. Deficitul motor acut la CG – cum recunosc urgentele? (Sindrom Guillaine Barre, botulismul, miastenia gravis, mielitele acute, etc)
  6. Hemipareza acuta la CG (AVC ischemic, hemoragic, scleroza multipla la copil, etc)
  7. Boli neurometabolice care se pot prezenta acut
  8. Cand si cum fac punctie lombara? Teorie si practica (manechin)
  9. Cand si cum examinez fundul de ochi? Teorie si practica – pattern recognition – pe baza slide-uri de FO
  10. Rolul investigatiilor complementare (paraclinice) – Pe cazuri clinice (CT, IRM, EEG, EMG)

Analytical programme – OPTIONAL course
Pediatric Neurology in Emergency Room – practical elements based on clinical cases
– 2 weeks module (Optional course)
– English speaking students (Vth and VIth year students)
Maximum 40 students, minimum 5 students
Course 10 h (theoretical and practical) – 2h/day

  1. The child with headache – how to recognize when there is something serious?
  2. Child with loss of consciousness and child with head trauma – how to manage?
  3. Status epilepticus – theory and practice
  4. Paroxystic events in childhood – discussions based on video recordings
  5. Acute motor deficit in emergency room – how to recognize emergencies? (Guillain Barre syndrome, botulism, myastenia gravis, acute myelitis, etc.)
  6. Acute hemiparesis in emergency (Ischemic vascular event, hemoragic acute event, multiple sclerosis in childhood, etc.)
  7. Neurometabolic diseases with acute presentation
  8. When and how to perform Lumbar Puncture? Theoretical and practical issues (manikin)
  9. When and how to examine optic fundus? Theoretical and practical issues – pattern recognition – based on slides of OF
  10. Role of paraclinical investigations – Based on clinical cases (CT-scan, IRM, EEG, EMG)

Curs I. EEG – notiuni de baza – Prof. Dr. Dana Craiu1 saptamana: 31.oct-4.nov.2016
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice

Curs II. EEG – notiuni practice – Prof. Dr. Dana Craiu
1 saptamana: 5-9.dec.2016
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 10 ore curs, 20 ore practice

Curs III. EEG in epilepsie – Prof. Dr. Dana Craiu
1 saptamana: 9-13.ian.2017
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice

Curs IV. Sindroame in epilepsie – Prof. Dr. Dana Craiu
1 saptamana: 6-10.mar.2017
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice

Curs V. Evaluarea neurologica si a dezvoltarii la sugar si copil – aspecte normale si depistarea precoce a
anomaliilor (exemplificare prin cazuri clinice) – As Univ. Dr. Catrinel Iliescu
1 saptamana: 21-25.nov.2016
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice
Curs VI. Evaluarea neurologica si a dezvoltarii la sugar si copil – aspecte normale si depistare precoce a
anomaliilor (exemplificare prin cazuri clinice) – As Univ. Dr. Catrinel Iliescu
1 saptamana: 5-12.mai.2017
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice

Curs VI. Tratamentul in epilepsie – Prof. Dr. Dana Craiu
1 saptamana: 5-9.iun.2017
Locatie desfasurare: Spitalul Clinic de Psihiatrie „Prof. Dr. Al. Obregia”, Clinica Neurologie Pediatrica
Inscrierea trebuie precedata de acceptul scris al Coordonatorului de curs
Informatii la telefon: 0724966816
Numar cursanti: minim 2 – maxim 10
Programa analitica: 15 ore curs, 15 ore practice

  • Epilepsie,
  • boli neuromusculare,
  • epidemiologie,
  • genetica,
  • boli rare,
  • Duchenne,
  • Rett,
  • Dravet,
  • scleroza tuberoasa,
  • scleroza multipla,
  • migrena
  1. 6-EUROC/06.06.2011 din Programul PN II – IDEI; Proiect tip ESF-EUROCORES/ 2011-2014 – IP-09: Phenotype-genotype correlations in rare epilepsy syndromes in Romania (proiect individual partener in consortiul European EuroEPINOMICS –RES
  2. IBISD/ GEE006.10/ No.011093-23MAR-00-2012-2014 – Proiect tripartit – Romania-Franta-Belgia – Search of biomarkers for diagnosis, monitoring of disease and therapeutic response in Duchenne’s muscular dystrophy;
  3. Proiect tip FP7/ European Comission- Health Programme 2/ reference No. 534055/ 2013-2016 – CEC 2013: Centrul de referinta de chirurgia epilepsiei la copii – proiect Colaborator al proiectului European E-Epilepsy: A European pilot network of reference centers in refractory epilepsy and epilepsy surgery;
  4. COSt BM1208/2013-2017 – European Network for Human Congenital Imprinting Disorders
  5. ESBACE – European Project on the Burden And Care of Epilepsy – un proiect cofinantat de Comisia Europeana – consortiu Danemarca, Suedia, UK, Irlanda, Austria, Romania.

1. Beniczky S, Neufeld M, Diehl B, Dobesberger J, Trinka E, Mameniskiene R, Rheims S, Gil-Nagel A,Craiu D, Pressler R, Krysl D, Lebedinsky A, Tassi L, Rubboli G, Ryvlin P. Testing patients during seizures: A European consensus procedure developed by a joint taskforce of the ILAE – Commission on European Affairs and the European Epilepsy Monitoring Unit Association. Epilepsia. 2016 Jul 21. doi: 10.1111/epi.13472. [Epub ahead of print]

2. Kobulashvili T, Höfler J, Dobesberger J, Ernst F, Ryvlin P, Cross JH, Braun K, Dimova P, Francione S, Hecimovic H, Helmstaedter C, Kimiskidis VK, Lossius MI, Malmgren K, Marusic P, Steinhoff BJ, Boon P, Craiu D, Delanty N, Fabo D, Gil-Nagel A, Guekht A, Hirsch E, Kalviainen R, Mameniskiené R, Özkara Ç, Seeck M, Rubboli G, Krsek P, Rheims S, Trinka E. Current practices in long-term video-EEG monitoring services: A survey among partners of the E-PILEPSY pilot network of reference for refractory epilepsy and epilepsy surgery. Seizure. 2016 May;38:38-45. doi: 10.1016/j.seizure.2016.03.009. Epub 2016 Apr 1.

3.  Craiu D, Barborica A, Motoescu C, Donos C, Ciurea J, Mindruta I. Presurgical Evaluation and Epilepsy Surgery in MRI Negative Resistant Epilepsy of Childhood with Good Outcome. Turk Neurosurg. 2015;25(6):905-13. doi: 10.5137/1019-5149.JTN.12093-14.0.

4.  Hardies K, de Kovel CG, Weckhuysen S, Asselbergh B, Geuens T, Deconinck T, Azmi A, May P, Brilstra E, Becker F, Barisic N,Craiu D, Braun KP, Lal D, Thiele H, Schubert J, Weber Y, van ‘t Slot R, Nürnberg P, Balling R, Timmerman V, Lerche H, Maudsley S, Helbig I, Suls A, Koeleman BP, De Jonghe P; autosomal recessive working group of the EuroEPINOMICS RES Consortium. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015 Nov;138(Pt 11):3238-50. doi: 10.1093/brain/awv263. Epub 2015 Sep 17.

5.  Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, Carrizosa J, Elia M, Craiu D, Jovic NJ, Nordli D, Hirtz D, Wong V, Glauser T, Mizrahi EM, Cross JH. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia. 2015 Aug;56(8):1185-97. doi: 10.1111/epi.13057. Epub 2015 Jun 30. Review.

6.  Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M,Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B. Epilepsy in Rett syndrome–lessons from the Rett networked database. Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19.

7.  Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015 Apr;47(4):393-9. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

8.  Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7.

9.  Craiu D, Kaler S, Craiu M. Role of optic microscopy for early diagnosis of Menkes disease. Rom J Morphol Embryol. 2014;55(3):953-6.

10.  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. 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. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

11.  Bosemani T, Anghelescu C, Boltshauser E, Hoon AH Jr, Pearl PL,Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. Eur J Paediatr Neurol. 2014 May;18(3):249-56. doi: 10.1016/j.ejpn.2013.09.010. Epub 2013 Oct 9. Review.

12.  Craiu D. What is special about the adolescent (JME) brain? Epilepsy Behav. 2013 Jul;28 Suppl 1:S45-51. doi: 10.1016/j.yebeh.2012.12.008. Review.

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