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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Journal of medical genetics, 2005-04, Vol.42 (4), p.358-365

2005

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MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Journal of medical genetics, 2004-02, Vol.41 (2), p.125-129

2004

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Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Nature genetics, 2002-10, Vol.32 (2), p.267-272

2002

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Increased blood-brain barrier permeability with thymidine phosphorylase deficiency

Annals of neurology, 2004-12, Vol.56 (6), p.881-886

2004

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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

Neurology, 2005-01, Vol.64 (1), p.142

2005

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Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Human genetics, 2004-11, Vol.115 (6), p.515-524

2004

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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

Acta myologica, 2007-10, Vol.26 (2), p.108-111

2007

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An apparent excess of sex– and reproduction–related genes on the human X chromosome

Proceedings of the Royal Society. B, Biological sciences, 1999-01, Vol.266 (1415), p.203-209

1999

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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Nature, 2005-03, Vol.434 (7029), p.108-113

2005

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2093-2102

2006

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SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation

Human mutation, 2005-04, Vol.25 (4), p.372-383

2005

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T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

Annals of neurology, 2006-02, Vol.59 (2), p.358-364

2006

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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

Annals of neurology, 2003-09, Vol.54 (3), p.398-402

2003

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Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

Journal of investigative medicine, 2003, Vol.51 (5), p.261

2003

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sY116, a human Y-linked polymorphic STS

Journal of genetics, 2000-04, Vol.79 (1), p.17-20

2000

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Recent trends in medicare utilization and reimbursement for lumbar spine fusion and discectomy procedures

The spine journal, 2020-10, Vol.20 (10), p.1586-1594

2020

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Experimental and Numerical Study of a Usual Brick Filled with PCM to Improve the Thermal Inertia of Buildings

Energy procedia, 2013, Vol.36, p.766-775

2013

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Human versus Robot: A Propensity-Matched Analysis of the Accuracy of Free Hand versus Robotic Guidance for Placement of S2 Alar-Iliac (S2AI) Screws

Spine (Philadelphia, Pa. 1976), 2018-11, Vol.43 (21), p.E1297-E1304

2018

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Don't Put the CART Before the Horse: The Role of Radiation Therapy in Peri-CAR T-cell Therapy for Aggressive B-cell Non-Hodgkin Lymphoma

International journal of radiation oncology, biology, physics, 2023-08, Vol.116 (5), p.999-1007

2023

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An unusual case of epicardial lead migration presenting with hemoptysis

HeartRhythm case reports, 2020-07, Vol.6 (7), p.453-456

2020

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Medical Comorbidities in Medicare Patients Treated by Neurosurgery and Orthopedic Spine Surgeons

The spine journal, 2016-10, Vol.16 (10), p.S279-S279

2016

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In-field recurrences in relapsed/refractory (R/R) B-cell non-Hodgkin lymphoma (NHL) bridged with radiation prior to CD19 chimeric antigen receptor T-cell therapy (CART)

Journal of clinical oncology, 2022-06, Vol.40 (16_suppl), p.7556-7556

2022

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Experimental Study And Simulation Of Airflow In Solar Chimneys

Energy procedia, 2012, Vol.18, p.1289-1298

2012

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National Trends for Primary and Revision Posterior Lumbar Fusions throughout the United States

The spine journal, 2016-10, Vol.16 (10), p.S141-S142

2016

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation

Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Increased blood-brain barrier permeability with thymidine phosphorylase deficiency

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene

An apparent excess of sex– and reproduction–related genes on the human X chromosome

Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

SIMPLE mutations in Charcot‐Marie‐Tooth disease and the potential role of its protein product in protein degradation

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation

Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

sY116, a human Y-linked polymorphic STS

Does bridging radiation therapy affect the pattern of failure after CAR T-cell therapy in non-Hodgkin lymphoma?

Recent trends in medicare utilization and reimbursement for lumbar spine fusion and discectomy procedures

Experimental and Numerical Study of a Usual Brick Filled with PCM to Improve the Thermal Inertia of Buildings

Human versus Robot: A Propensity-Matched Analysis of the Accuracy of Free Hand versus Robotic Guidance for Placement of S2 Alar-Iliac (S2AI) Screws

Don't Put the CART Before the Horse: The Role of Radiation Therapy in Peri-CAR T-cell Therapy for Aggressive B-cell Non-Hodgkin Lymphoma

An unusual case of epicardial lead migration presenting with hemoptysis

Medical Comorbidities in Medicare Patients Treated by Neurosurgery and Orthopedic Spine Surgeons

In-field recurrences in relapsed/refractory (R/R) B-cell non-Hodgkin lymphoma (NHL) bridged with radiation prior to CD19 chimeric antigen receptor T-cell therapy (CART)

Experimental Study And Simulation Of Airflow In Solar Chimneys

National Trends for Primary and Revision Posterior Lumbar Fusions throughout the United States

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