Hugh J McMillan

Hugh J McMillan

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Hugh J McMillan

Hugh J McMillan

Publications by authors named "Hugh J McMillan"

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Phosphoserine aminotransferase deficiency: imaging findings in a child with congenital microcephaly.

J Matern Fetal Neonatal Med 2020 Mar 19;33(6):1033-1035. Epub 2018 Sep 19.

Department of Medical Imaging, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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https://www.tandfonline.com/doi/full/10.1080/14767058.2018.1
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http://dx.doi.org/10.1080/14767058.2018.1514375DOI Listing
March 2020

Drisapersen associated with elevated serum factor VIII levels in Duchenne muscular dystrophy.

Neurology 2020 Mar 19;94(12):538-540. Epub 2020 Feb 19.

From the Department of Pediatrics (H.J.M., A.A.), Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa; Department of Pediatrics (H.G.), Sick Kids Hospital, University of Toronto, Toronto; and Department of Pediatrics (S.A., C.C.), London Children's Hospital, University of Western Ontario, London, Ontario, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000009139DOI Listing
March 2020

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement.

Muscle Nerve 2020 02;61(2):143-155

Centre de Référence Maladies Neuromusculaires, Service de Neurologie, Réanimation et Réeducation Pédiatriques, Hôpital Raymond Poincaré, Garches, France.

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http://dx.doi.org/10.1002/mus.26752DOI Listing
February 2020

Developmental delay and neuropsychiatric comorbidities associated with Duchenne and Becker muscular dystrophy.

Muscle Nerve 2020 02 23;61(2):127-128. Epub 2019 Dec 23.

Department of Pediatrics, University of Ottawa, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/mus.26775DOI Listing
February 2020

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.

Eur J Epidemiol 2020 Feb 27. Epub 2020 Feb 27.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1007/s10654-020-00613-8DOI Listing
February 2020

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in .

Front Neurol 2020 13;11:77. Epub 2020 Feb 13.

Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.

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http://dx.doi.org/10.3389/fneur.2020.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031655PMC
February 2020

Nusinersen: Evidence of sustained clinical improvement and lessened fatigue in older ambulatory patients with spinal muscular atrophy.

Authors:
Hugh J McMillan

Muscle Nerve 2020 01 22;61(1):1-2. Epub 2019 Oct 22.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/mus.26735DOI Listing
January 2020

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Channels (Austin) 2019 12;13(1):153-161

b Institute of Organic Chemistry and Biochemistry , Czech Academy of Sciences , Prague , Czech Republic.

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http://dx.doi.org/10.1080/19336950.2019.1614415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527065PMC
December 2019

"Owl's Eye" Sign in Acute Flaccid Paralysis.

Can J Neurol Sci 2019 11;46(6):756-757

Department of Pediatrics, Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1017/cjn.2019.250DOI Listing
November 2019

Pediatric Neurology Workforce in Canada: A 5-Year Update.

Can J Neurol Sci 2019 09 26;46(5):566-574. Epub 2019 Jul 26.

Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1017/cjn.2019.229DOI Listing
September 2019

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatr Child Health 2019 Jul 8;24(4):270-271. Epub 2019 May 8.

Department of Neurology Paediatrics, Children's Hospital London Health Science Centre, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587424PMC
July 2019

Intermittent glucocorticoid regimes for younger boys with duchenne muscular dystrophy: Balancing efficacy with side effects.

Authors:
Hugh J McMillan

Muscle Nerve 2019 06 25;59(6):638-639. Epub 2019 Apr 25.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada.

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http://dx.doi.org/10.1002/mus.26490DOI Listing
June 2019

Periodic breathing in patients with NALCN mutations.

J Hum Genet 2018 Oct 3;63(10):1093-1096. Epub 2018 Jul 3.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/s10038-018-0484-1DOI Listing
October 2018

Bone Health and Osteoporosis Management of the Patient With Duchenne Muscular Dystrophy.

Pediatrics 2018 10;142(Suppl 2):S34-S42

Golisano Children's Hospital, School of Medicine and Dentistry, University of Rochester, Rochester, New York.

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2018-0333EDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442478PMC
October 2018

Obesity and Endocrine Management of the Patient With Duchenne Muscular Dystrophy.

Pediatrics 2018 10;142(Suppl 2):S43-S52

Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada; and

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http://pediatrics.aappublications.org/lookup/doi/10.1542/ped
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http://dx.doi.org/10.1542/peds.2018-0333FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460463PMC
October 2018

Worster-Drought Syndrome Associated With Mutations.

Child Neurol Open 2018 2;5:2329048X18791083. Epub 2018 Aug 2.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://journals.sagepub.com/doi/10.1177/2329048X18791083
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http://dx.doi.org/10.1177/2329048X18791083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077897PMC
August 2018

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

J Child Neurol 2018 04 8;33(5):329-332. Epub 2018 Feb 8.

1 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://journals.sagepub.com/doi/10.1177/0883073818756680
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http://dx.doi.org/10.1177/0883073818756680DOI Listing
April 2018

Mononeuritis multiplex associated with minocycline in an adolescent.

Muscle Nerve 2017 10 19;56(4):E33-E35. Epub 2017 Jun 19.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/mus.25718DOI Listing
October 2017

We need a "made in Canada" orphan drug framework.

CMAJ 2017 10;189(41):E1274-E1275

Children's Hospital of Eastern Ontario Research Institute (McMillan), University of Ottawa, Ottawa; London Health Sciences Child Health Research Institute (Campbell), Western University, London, Ont.

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http://dx.doi.org/10.1503/cmaj.170195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647165PMC
October 2017

Family Perspectives on Visiting the Pediatric Emergency Department for Migraine: A Qualitative Study.

Pediatr Emerg Care 2017 Sep 18. Epub 2017 Sep 18.

From the *Children's Hospital of Eastern Ontario and †University of Ottawa, Ottawa; and ‡Queen's University, Kingston; and §Genome Canada, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1097/PEC.0000000000001285DOI Listing
September 2017

Disability, Quality of Life, and Pain Coping in Pediatric Migraine: An Observational Study.

J Child Neurol 2017 07 9;32(8):717-724. Epub 2017 Apr 9.

1 University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073817702025DOI Listing
July 2017

Case 2: Gross Motor Regression in an 18-month-old Girl.

Pediatr Rev 2017 Feb;38(2):95

Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://pedsinreview.aappublications.org/lookup/doi/10.1542/p
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http://dx.doi.org/10.1542/pir.2015-0026DOI Listing
February 2017

Diagnosis and outcome of childhood perineurioma.

Childs Nerv Syst 2016 Aug 16;32(8):1555-60. Epub 2016 Apr 16.

The Ottawa Hospital, Civic Campus, University of Ottawa, 1053 Carling Ave, Ottawa, ON, K1Y 4E9, Canada.

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http://dx.doi.org/10.1007/s00381-016-3089-zDOI Listing
August 2016

Lumbar puncture simulation in pediatric residency training: improving procedural competence and decreasing anxiety.

BMC Med Educ 2016 Aug 8;16:198. Epub 2016 Aug 8.

Department of Pediatrics, Division of Neurology, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s12909-016-0722-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977880PMC
August 2016

Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature.

Pediatrics 2016 07 2;138(1). Epub 2016 Jun 2.

Otolaryngology-Head and Neck Surgery, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada

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http://dx.doi.org/10.1542/peds.2015-4605DOI Listing
July 2016

Histomorphometry and Bone Matrix Mineralization Before and After Bisphosphonate Treatment in Boys With Duchenne Muscular Dystrophy: A Paired Transiliac Biopsy Study.

J Bone Miner Res 2016 05 15;31(5):1060-9. Epub 2016 Feb 15.

Department of Pediatrics, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/jbmr.2756
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http://dx.doi.org/10.1002/jbmr.2756DOI Listing
May 2016

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Neuromuscul Disord 2015 Oct 5;25(10):794-9. Epub 2015 Aug 5.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.017DOI Listing
October 2015

Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle.

Can J Neurol Sci 2015 Sep;42(5):338-40

2Division of Neurology,University of Ottawa,Children's Hospital of Eastern Ontario,Ottawa,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2015.59DOI Listing
September 2015

Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders.

Authors:
Hugh J McMillan

Muscle Nerve 2015 Jun 24;51(6):791-2. Epub 2015 Apr 24.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.

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http://dx.doi.org/10.1002/mus.24683DOI Listing
June 2015

Acute asymmetrical spinal infarct secondary to fibrocartilaginous embolism.

Childs Nerv Syst 2015 Mar 8;31(3):487-91. Epub 2014 Oct 8.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, Ontario, K1H 8L1, Canada.

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http://dx.doi.org/10.1007/s00381-014-2562-9DOI Listing
March 2015

Emergence of the primary pediatric stroke center: impact of the thrombolysis in pediatric stroke trial.

Stroke 2014 Jul 10;45(7):2018-23. Epub 2014 Jun 10.

From the Department of Neurology, Children's Hospital Colorado, Aurora (T.J.B.); Departments of Neurology, Psychiatry and Radiology, Boston Children's Hospital, MA (M.J.R.); Department of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada (G.d.V.), Department of Neurology, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada (A.K.); Department of Pediatrics, Medical College of Wisconsin, Milwaukee, and BloodCenter of Wisconsin (J.C.G.); Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada (A.K.C.); Department of Pediatrics, Dell Children's Medical Center, Austin, TX (C.A.H.), Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia (R.N.I.); Department of Neurology, Memorial Hermann Hospital, Houston, TX (J.C.G.); Division of Pediatric Neurology, Vanderbilt University, Nashville, TN (L.C.J.); Department of Neurology, Primary Children's Medical Center, Salt Lake City, UT (S.B.); Department of Neurology, Cleveland Clinic, OH (N.R.F.); Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas TX (M.M.D.); Department of Neurology, Stanford University, CA (J.E.); Department of Hematology and Oncology, Cook Children's Medical Center, Fort Worth, TX (M.T.); Department of Neurology, Columbia University Medical Center, New York, NY (S.S.); Division of Child Neurology, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, PA (D.D.C.); Division of Pediatric Hematology/Oncology, Department of Pediatrics, Mass General Hospital for Children, and Massachusetts General Hospital, Boston (E.F.G.); Department of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada (H.J.M.); Departments of Pediatrics and Neurology, Yale-New Haven Children's Hospital, CT (L.A.B.); Department of Neurology, Seattle Children's Hospital, WA (K.S., C.A.-L.); and Department of Neurology, University of Washington, Seattle (C.A.-L.).

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http://dx.doi.org/10.1161/STROKEAHA.114.004919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083478PMC
July 2014

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Dev Med Child Neurol 2014 Jan 15;56(1):91-4. Epub 2013 Nov 15.

Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1111/dmcn.12334DOI Listing
January 2014

Childhood chronic inflammatory demyelinating polyradiculoneuropathy: combined analysis of a large cohort and eleven published series.

Neuromuscul Disord 2013 Feb 6;23(2):103-11. Epub 2012 Nov 6.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada K1H 8L1.

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http://dx.doi.org/10.1016/j.nmd.2012.09.008DOI Listing
February 2013

Autoimmune neuromuscular disorders in childhood.

Curr Treat Options Neurol 2011 Dec;13(6):590-607

Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1007/s11940-011-0146-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3207132PMC
December 2011

A report of hereditary neuropathy with liability to pressure palsy (HNPP) presenting with brachial plexopathy: the value of complete electrodiagnostic testing.

Am J Electroneurodiagnostic Technol 2011 Sep;51(3):183-90

Division of Neurology, University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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September 2011

Commentary.

J Neurosci Rural Pract 2011 Jul;2(2):196-7

Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159365PMC
July 2011

Pediatric sciatic neuropathy associated with neoplasms.

Muscle Nerve 2011 Feb;43(2):183-8

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.21867DOI Listing
February 2011

Chiari 1 malformation and holocord syringomyelia presenting as abrupt onset foot drop.

Childs Nerv Syst 2011 Jan 2;27(1):183-6. Epub 2010 Sep 2.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1007/s00381-010-1275-yDOI Listing
January 2011

Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy.

Pediatrics 2011 Jan 13;127(1):e132-6. Epub 2010 Dec 13.

Department of Neurology, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

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http://dx.doi.org/10.1542/peds.2010-0929DOI Listing
January 2011

Cranial nerve hypertrophy in pediatric chronic inflammatory demyelinating polyradiculoneuropathy.

Pediatr Radiol 2010 Dec 13;40 Suppl 1:S176. Epub 2010 Oct 13.

Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1007/s00247-010-1859-4DOI Listing
December 2010

Novel MPZ mutations and congenital hypomyelinating neuropathy.

Neuromuscul Disord 2010 Nov;20(11):725-9

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100025
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http://dx.doi.org/10.1016/j.nmd.2010.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952650PMC
November 2010

Electrophysiologic evidence for anterior horn cell disease in amyoplasia.

Pediatr Neurol 2010 Aug;43(2):142-7

Department of Neurology, Hasbro Children's Hospital, Brown Medical School, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.03.018DOI Listing
August 2010

Brachial plexopathy and nonaccidental injury: role of the neurologist.

J Child Neurol 2010 May;25(5):620-2

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1177/0883073809359808DOI Listing
May 2010

Achalasia, chronic sensory neuropathy, and N-type calcium channel autoantibodies: beneficial response to IVIG.

Clin J Gastroenterol 2010 Apr 24;3(2):78-82. Epub 2010 Feb 24.

Department of Neurology, Lahey Clinic, 41 Mall Road, Burlington, MA, 01805, USA.

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http://dx.doi.org/10.1007/s12328-010-0140-6DOI Listing
April 2010

Duchenne muscular dystrophy: Canadian paediatric neuromuscular physicians survey.

Can J Neurol Sci 2010 Mar;37(2):195-205

Division of Neurology, Department of Paediatrics, Children's Hospital of Eastern Ontario, Ottawa.

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http://dx.doi.org/10.1017/s0317167100009926DOI Listing
March 2010

Pediatric monomelic amyotrophy: evidence for poliomyelitis in vulnerable populations.

Muscle Nerve 2009 Nov;40(5):860-3

Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mus.21401DOI Listing
November 2009

Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient.

Muscle Nerve 2009 Mar;39(3):396-9

Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/mus.21222DOI Listing
March 2009