Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Hereditary Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Clinical Correlation of Brain MRI and MRS Abnormalities in Patients with Wilson Disease
Neurol 63:638-643, Page,R.A.,et al, 2004
Neurological Sequelae in Twins Born After Assisted Conception: Controlled National Cohort Study
BMJ 329:311-314, Pinborg,A.,et al, 2004
Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
The Occurence of Guillain-Barre Syndrome Within Families
Neurol 63:1747-1750, Geleijns,K.,et al, 2004
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Repeated Screening for Intracranial Aneurysms in Familial Subarachnoid Hemorrhage
Stroke 34:2788-2791, Wermer,M.J.H.,et al, 2003
Long-Term Follow-Up of Thalamic Deep Brain Stimulation for Essential and Parkinsonian Tremor
Neurol 61:1601-1604, Kumar,R.,et al, 2003
The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.A.,et al, 2003
Prevalence and Clinical Features of HTLV Neurologic Disease in the HTLV Outcomes Study
Neurol 61:1588-1594, Orland,J.R.,et al, 2003
Hereditary Neuropathy With Liability to Pressure Palsies Mimicking Hypoglossal Nerve Injuries
Neurol 61:1457-1458, Corwin,H.M. &Girardet,R.E., 2003
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Treatment of Sporadic Hemiplegic Migraine with Calcium-Channel Blocker Verapamil
Neurol 60:120-121, Yu,W. &Horowitz,S.H., 2003
Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Neuropsychological and Quality of Life Outcomes 12 Months After Unilateral Thalamic Stimulation for Essential Tremor
JNNP 74:305-311, Fields,J.A.,et al, 2003
Rest Tremor in Patients with Essential Tremor
Arch Neurol 60:405-410, Cohen,O.,et al, 2003
Treatment of Wilson Disease With Ammonium Tetrathiomolybdate, III. Initial Therapy in a Total of 55 Neurologically Affected Patients and Follow-up With Zinc Therapy
Arch Neurol 60:379-385, Brewer,G.J.,et al, 2003
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
Diffusion MR Imaging Changes Associated with Wilson Disease
AJNR 24:965-967, Sener,R.N., 2003
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Should Asymptomatic Patients with Hereditary Haemorrhagic Telangiectasia (HHT) be Screened for Cerebral Vascular Malformations? Data from 22 061 years of HHT Patient Life
JNNP 74:743-748, Easey,A.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Hypoglossal Neuropathy in Hereditary Neuropathy with Liability to Pressure Palsy
Neurol 61:1154-1155, Winter,W.C. &Juel,V.C., 2003
Can We Prevent Cerebral Palsy?
NEJM 349:1765-1769, Nelson,K.B., 2003
Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer Disease
Arch Neurol 60:1541-1544,1521, Tedde,A.,et al, 2003
Tranexamic Acid in Hereditary Hemorrhagic Telangiectasia
NEJM 346:457, Sabra,C.,et al, 2002
Mutations in Each of the Five Subunits of Translation Initiation Factor eIF2B Can Cause Leukoencephalopathy with Vanishing White Matter
Ann Neurol 51:264-270, van der Knaap,M.S.,et al, 2002
Familial Amyotrophic Lateral Sclerosis
Muscle Nerve 25:135-159, Hand,C.K. &Rouleau,G.A., 2002
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Spontaneous Regression of Cerebral Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia
AJNR 23:1049-1050, Cloft,H.J., 2002
Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002
A Double-blind Placebo-controlled Trial of Topiramate Treatment for Essential Tremor
Neurol 59:132-134, Connor,G.S., 2002
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Indications and Usefulness of Nerve Biopsy
Arch Neurol 59:1532-1535, Said,G., 2002
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002